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Electronic Theses and Dissertations

12-2020

Language ability and concurrent predictors of pragmatic Language ability and concurrent predictors of pragmatic

communication in children with williams syndrome or 7q11.23 communication in children with williams syndrome or 7q11.23

duplication syndrome. duplication syndrome.

Amanda G. Harmon University of Louisville

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Recommended Citation Recommended Citation Harmon, Amanda G., "Language ability and concurrent predictors of pragmatic communication in children with williams syndrome or 7q11.23 duplication syndrome." (2020). Electronic Theses and Dissertations. Paper 3531. Retrieved from https://ir.library.louisville.edu/etd/3531

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LANGUAGE ABILITY AND CONCURRENT PREDICTORS OF

PRAGMATIC COMMUNICATION IN CHILDREN WITH

WILLIAMS SYNDROME OR 7Q11.23 DUPLICATION SYNDROME

By:

Amanda G. Harmon

B. S., The Pennsylvania State University, 2006

M.S., The Pennsylvania State University, 2008

M.S., University of Louisville, 2011

A Dissertation

Submitted to the Faculty of the

College of Arts and Sciences

of the University of Louisville

in Partial Fulfillment of the Requirements

for The Degree of

Doctor of Philosophy

In Experimental Psychology

Department of Psychological and Brain Sciences

University of Louisville

Louisville, Kentucky

December 2020

Copyright 2020 by Amanda G. Harmon

All rights reserved

ii

LANGUAGE ABILITIES AND CONCURRENT PREDICTORS OF

PRAGMATIC COMMUNICATION IN CHILDREN WITH

WILLIAMS SYNDROME OR 7Q11.23 DUPLICATION SYNDROME

By:

Amanda G. Harmon

B. S., The Pennsylvania State University, 2006

M.S., The Pennsylvania State University, 2008

M.S., University of Louisville, 2011

A dissertation approved on

December 11, 2020

by the following Dissertation Committee:

____________________________________

Carolyn B. Mervis, Ph.D.

Dissertation Director

____________________________________

John R. Pani, Ph.D.

____________________________________

Cara H. Cashon, Ph.D.

____________________________________

Keith B. Lyle, Ph.D.

____________________________________

Guy O. Dove, Ph.D.

iii

DEDICATION

To my husband, Billy, without whom this dissertation would never have been

completed, much less started. It was almost 30 years ago that I left college to marry you.

You made a promise to me that when the time was right, you would encourage me to go

back and finish my degree. When that time came, you kept your promise and motivated

me, influenced me, and persuaded me until I inevitably returned to school – some 14

years later. This is a small thank you for all the times that you prayed with me and for me,

the times you encouraged me and endured with me as I finished each milestone. Another

15 years later and I have finished. Behind this long-awaited degree, stands your

inordinate support. Thank you for believing I could do it and for keeping your promise.

Ephesians 5:25

Husbands, love your wives, just as Christ also loved the church and gave Himself up for

her.

iv

ACKNOWLEDGEMENTS

To my husband Billy, thank you so much for all you have done, I could have

never made it this far without your encouragement.

I am thankful for my children Hannah, Ashlynn, and Joshua who each spent time

by my side as we did schoolwork together. I am grateful for the many ways you have

each prayed, supported, and encouraged me in this process. To my youngest, Arianna, I

am thankful for the fun laughs we had this last semester while you were learning the

alphabet and attempting to name each letter in this work.

Mom and Dad, thank you for teaching me to never stop learning and encouraging

me to work hard.

Nana and Paw Paw Broom, thank you so much for the prayers and support

through the years.

I am extremely grateful for Ms. Gail and the many practical ways you helped me

the last few years.

I extend sincere gratitude to Dr. Carolyn Mervis for her teaching, support, and

guidance along the way.

I extend heartfelt gratitude to my entire committee, Dr. Carolyn Mervis, Dr. John

Pani, Dr. Cara Cashon, Dr. Keith Lyle, and Dr. Guy Dove, who generously gave of their

time to help me see this to the end.

I am appreciative to the children with Williams syndrome and 7q11.23 duplication

syndrome and their families for their continued participation in our research.

I am thankful for all the current and past members of the Neurodevelopmental

Sciences Lab for their help with data collection and support through the process.

v

I would like to express my gratitude to the funding agencies that provided the

grants to Dr. Carolyn Mervis that supported this research: Williams Syndrome

Association grants WSA 0104 and WSA 0111, Simons Foundation grant SFARI 238896,

Eunice Kennedy Shriver National Institute of Child Health and Human Development

grant R37 HD29957, and National Institute of Neurological Disorders and Stroke grant

R01 NS35102.

vi

ABSTRACT

LANGUAGE ABILITIES AND CONCURRENT PREDICTORS OF

PRAGMATIC COMMUNICATION IN CHILDREN WITH

WILLIAMS SYNDROME OR 7Q11.23 DUPLICATION SYNDROME

Amanda G. Harmon

December 11, 2020

The present project examined the language abilities of children with two

reciprocal neurogenetic disorders: Williams syndrome (WS), which is caused by a

hemideletion of 26 - 28 genes on chromosome 7q11.23, and 7q11.23 duplication

syndrome (Dup7), which results from an extra copy of the same 26 - 28 genes.

Appraising the language of children with WS and Dup7 helps in understanding the

communication difficulties they encounter. There were three research goals. The first was

to determine the overall level of language and communication ability as measured by the

Children’s Communication Checklist-2 (CCC-2; Bishop, 2006) for each syndrome,

relative to chronological age expectations. The second was to determine the pattern of

relative strengths and weaknesses in language form and content, pragmatic

communication, and autism-related behaviors for each syndrome. The final goal was to

determine the concurrent predictors of pragmatic communication ability for each

syndrome. The sample consisted of 247 children with WS (126 females, 121 males) aged

6.01 – 15.50 years (M = 10.57 years, SD = 2.96) and 56 children (28 females, 28 males)

with Dup7 aged 6.08 – 15.29 years (M = 10.33 years, SD = 2.82).

vii

Findings indicated that although there was considerable variability in overall

language and communication ability, more than 60% of the children in each group met

the CCC-2 criterion for language impairment. For most children, performance on the

Language Form and Content scales was similar to performance on the Pragmatic

Communication scales, a pattern characteristic of children in the general population.

Each syndrome demonstrated a pattern of relative strengths and weaknesses on

the CCC-2 scales. For the Language Form and Content scales, children with WS

evidenced a significant relative weakness on the Coherence scale in comparison to their

performance on the Speech, Syntax, and Semantics scales. In contrast, children with

Dup7 evidenced a significant relative weakness on the Speech scale. Furthermore,

children with Dup7 earned a significantly lower scaled score than children with WS on

the Speech scale. For the Pragmatic Communication scales, children with WS

demonstrated relative weaknesses on the Initiation and Use of Context scales in

comparison to the Scripted Language and Nonverbal Communication scales. Children

with Dup7 demonstrated a partially overlapping pattern, with relative weaknesses on the

Initiation and Nonverbal Communication scales. On the Autism-related scales, children

with WS demonstrated a relative strength on the Social Relations scale compared to the

Interests scale. Children with Dup7 demonstrated the opposite pattern.

For both syndromes, Pragmatic Communication ability was predicted by

concurrent Language Form and Content ability, behavior and emotion regulation ability,

and chronological age. For the WS group, sex also was a significant predictor. The effects

of gene dosage on language and communication ability and implications of the findings

for interventions designed to improve pragmatic communication abilities are discussed.

viii

TABLE OF CONTENTS

DEDICATION iii

ACKNOWLEDGEMENTS iv

ABSTRACT vi

LIST OF TABLES ix

LIST OF FIGURES xii

CHAPTER

I. INTRODUCTION 1

Children’s Communicative Checklist 3

Factors Associated with Pragmatic Communication as

Measured by the CCC-2 4

Williams Syndrome (WS) 10

7q11.23 Duplication Syndrome (Dup7) 18

Present Dissertation 20

II. METHOD 22

III. RESULTS 32

IV.DISCUSSION 62

REFERENCES 73

CURRICULUM VITAE 89

ix

LIST OF TABLES

1. Examples of CCC-2 Items Measuring Communication Difficulty or Strength as a

Function of CCC-2 Scale ……………………………………………….…….26

2. Descriptive Statistics for Parents’ Ratings of the Performance of Children with

Williams Syndrome and 7q11.23 Duplication Syndrome on the Children’s

Communication Checklist-2 ……………………………………….…………33

3. Correlations between Scaled Scores on the CCC-2 Scales for Children with

Williams Syndrome….………………………………………………………..35

4. Correlations between Scaled Scores on the CCC-2 Scales for Children with

Duplication 7q11.23 Syndrome……………………………………………….36

5. Descriptive Statistics for the CCC-2 Composite Standard Score and the Social

Interaction Difference Index for Children with Williams Syndrome or 7q11.23

Duplication Syndrome………………………………………….…………….38

6. Descriptive Statistics for Parents’ Ratings of the Performance of Children with

Williams Syndrome or 7q11.23 Duplication Syndrome on the CCC-2 Language

Form and Content Scales……………………………………………………..41

7. P values (Using Sidak Correction) and Cohen’s d Values for Pairwise

Comparisons of Scaled Scores on the CCC-2 Language Form and Content Scales

as a Function of Syndrome …………………………………………………..44

x

8. P values (Using Sidak Correction) and Cohen’s d Values for Pairwise

Comparisons of Scaled Scores on the CCC-2 Language Form and Content Scales

as a Function of Sex ……………………………………………………….…46

9. Descriptive Statistics for Parents’ Ratings of the Performance of Children with

Williams Syndrome or 7q11.23 Duplication Syndrome on the CCC-2 Pragmatic

Scales …………………………………………….…………………………..49

10. P values (using Sidak Correction) and Cohen’s d Values for Pairwise

Comparisons of Scaled Scores on CCC-2 Pragmatic Scales as a function of

Syndrome …………………………………………………………………,,,,.51

11. Descriptive Statistics for the Parents’ Ratings of the Performance of Children with

Williams Syndrome or 7q11.23 Duplication Syndrome on the CCC-2 Autism-

related Scales ………………………………………………………………...54

12. Descriptive Statistics for the Continuous Variables Included in the Regression

Analyses: Children with Williams Syndrome …………………………..…...57

13. Correlations for Parent Ratings of the Performance of Children with Williams

Syndrome on the Regression Variables ………….…………………………..57

14. Multiple Regression Analysis Predicting Concurrent Pragmatic Communication

Abilities for Children with Williams Syndrome as Measured by the Children’s

Communication Checklist -2 Mean Pragmatic Communication

Scaled Score …………………………………………………………..….….58

15. Descriptive Statistics for the Continuous Variables Included in the Regression

Analyses: Children with 7q11.23 Duplication Syndrome ………………..….59

xi

16. Correlations for Parent Ratings of the Performance of Children with 7q11.23

Duplication Syndrome on the Regression Variables.…………………….…..60

17. Multiple Regression Analysis Predicting Pragmatic Concurrent Communication Abilities

for Children with 7q11.23 Duplication Syndrome as Measured by the Children’s

Communication Checklist-2 Mean Pragmatic Communication Scaled

Score………………………………………………..………………………...61

xii

LIST OF FIGURES

1. Mean scaled scores for the CCC-2 Form and Content scales for children with Williams

syndrome and children with 7q11.23 duplication syndrome. Error bars indicate the 95%

confidence intervals…………………………………………………………………..42

2. Mean scaled scores for children with Williams syndrome for the CCC-2 Form and

Function scales as a function of sex. Error bars indicate the 95% confidence

intervals........................................................................................................................43

3. Mean scaled scores for the CCC-2 Pragmatic Communication scales for children with

Williams syndrome and children with 7q11.23 duplication syndrome. Error bars indicate

the 95% confidence intervals…………………………………………………………50

4. Mean scaled scores for the CCC-2 Autism-related scales for children with Williams

syndrome and children with 7q11.23 duplication syndrome. Error bars indicate the 95%

confidence intervals…………………………………………………………………..55

1

CHAPTER I

INTRODUCTION

The ability to use language effectively is beneficial in day-to-day social

interactions and in building friendships. Bloom and Lahey (1978) define language as

consisting of three essential elements: form (speech and grammar), content (semantics),

and use (pragmatics). Pragmatic language requires that the speaker consider the situation

and the relationships of those in the conversation and adjust his or her form and content

accordingly (Washburn, 2011). An individual may be able to pronounce words correctly

and use complex sentences with proper grammar. Nevertheless, when the speaker does

not consider the social situation, these grammatically correct sentences may be

misunderstood or misinterpreted. Background knowledge and social interaction skills

need to be used to create understanding and meaning in conversation (Norbury &

Holloway, 2014). Thus, pragmatics includes an understanding of intent, discourse

management skills, and following social dialogue rules, and involves both linguistic and

non-linguistic communication (Landa, 2005). Findings from previous studies have

identified relations between pragmatic communication ability and nonverbal ability,

language form and content ability, sex, and executive function skills, although as

reviewed below, the strength of these relations and the consistency with which they are

found varies.

The ability to use socially appropriate language is challenging for individuals with

a variety of disabilities. Reviews of the literature demonstrate that children who have

2

language disorders or learning disorders (Lapadat, 1991) and children with emotional and

behavioral disorders (Hyter, Rodgers-Adkinson, Self, Simmons, & Jantz, 2001) have

difficulty with pragmatic language, even though they do not have intellectual disability

(ID). Children with autism spectrum disorder (ASD) have difficulty with pragmatic

communication regardless of intellectual ability (Philofsky, Fidler, & Hepburn, 2007;

Volden & Phillips, 2010), as do children with genetic disorders associated with ID or

lower intellectual ability relative to family members, for example, children with Down

syndrome (DS) (Laws & Bishop, 2004; Lee et al., 2017), children with Sotos syndrome

(Lane, Van Herwegen, & Freeth, 2019), and children with Williams syndrome (WS)

(Lane et al., 2019; Laws & Bishop, 2004; Philofsky et al., 2007). In the present

dissertation, I delineate and compare the pragmatic communication abilities of children

with WS, a genetic disorder caused by a deletion of 26 – 28 genes on chromosome

7q11.23 (Hillier et al., 2003) and its reciprocal syndrome, 7q11.23 duplication syndrome

(Dup7), which is caused by an extra copy of the same set of genes (Somerville et al.,

2005), and consider the concurrent predictors of pragmatic communication abilities for

children with each syndrome. The comparison of reciprocal syndromes allows for

consideration of possible effects of gene dosage on the phenotype of each syndrome. In

the remainder of this chapter, I provide an overview of the Children’s Communication

Checklist-2 (CCC-2; Bishop, 2003) – the assessment that will be used to measure

language and pragmatic communication in this dissertation, review prior research on

factors associated with pragmatic communication ability in typically developing (TD)

children and children with disabilities other than WS or Dup7, and then provide a brief

overview of WS and Dup7, including prior research on pragmatic abilities.

3

Children’s Communicative Checklist, Second Edition

The CCC-2 (Bishop, 2013) assesses the day-to-day communication of children

aged 4 – 16 years. It is considered the instrument of choice for assessing pragmatic

language concerns (Adams, 2001), having a high sensitivity for identifying pragmatic

language problems (Bignell & Cain, 2017; Norbury, Nash, Barid, & Bishop, 2004;

Volden & Phillips, 2010). The parent report form was used in this dissertation. The CCC-

2 includes ten scales. The first four measure form and content aspects of language: A.

Speech, B. Syntax, C. Semantics, and D. Coherence. (These four scales are referred to as

structural language by some authors.) The second four measure pragmatic aspects: E.

Initiation, F. Stereotyped Language, G. Use of Context, and H. Nonverbal

Communication. The last two scales address social characteristics that often are

associated with ASD: I. Social Relations and J. Interests.

An age-standardized scaled score (mean = 10, SD = 3) can be derived from the

raw score for each scale. The General Communication Composite (GCC) standard score

(SS) is based on the sum of the scaled scores from scales A – H. The Social Interaction

Difference Index (SIDI) is calculated by adding the scaled scores for scales E, H, I, and J

(two of the pragmatics scales plus the two ASD-associated scales) and subtracting the

sum of scaled scores for scales A through D (the language form and content scales).

Scores of -11 or lower are considered consistent with an ASD profile. In contrast, scores

of +11 or higher are considered compatible with a specific language impairment (SLI)

profile. Scores between -10 and 10 are considered to be in the typical range.

4

Factors Associated with Pragmatic Communication as Measured by the CCC-2

There have been a number of studies looking at the correlates of pragmatic

communication ability as measured by the CCC-2 (e.g., Broeders, Geurts, & Jennekens-

Schinkel, 2010; Leonard, Milich & Lorch, 2011; Smith, Næss, & Jarrold, 2017; Timler,

2014). The possible correlates that are most often considered are intellectual ability,

language form and content skills, sex, and behavior regulation. Below I briefly

summarize the findings regarding relations between pragmatic language ability and each

of these variables.

Intellectual Ability

The findings from studies addressing the relation between intellectual ability and

pragmatic language are mixed. There are no studies that have reported the relation

between intellectual ability and CCC-2 pragmatic communication for TD children. Lee et

al. (2017), using age equivalent scores on the Comprehensive Assessment of Spoken

Language (CASL; Carrow-Woolfolk, 1999) Pragmatic Judgment scale found a positive

correlation between pragmatic language ability and nonverbal mental age for TD

children. Verbal IQ has been found to be positively related to CCC-2 pragmatic

communication ability for children with visual impairment (Pijnacker, Vervloed &

Steenbergen, 2012) and children with epilepsy (Broeders et al., 2010). CCC-2 pragmatic

communication ability as reported by professionals working with the participants was

found to be positively related to both Verbal IQ and Performance (nonverbal) IQ in a

clinical sample of children with ASD, ADHD, and/or specific learning disability (Bishop

& Baird, 2001). For children with DS, pragmatic communication ability as measured by

the CCC-2 (Udhnani et al., 2019) was positively related to nonverbal IQ.

5

In contrast, some studies did not find a significant relation between IQ and CCC-2

pragmatic communication ability. Leonard and colleagues (2011) did not find a

significant relation between CCC-2 pragmatic composite and Verbal IQ for children with

ADHD. In a clinical sample (including children with ASD, ADHD, or specific learning

disability), CCC-2 pragmatic communication ability as reported by parents was not

significantly related to Verbal IQ or Performance IQ (Bishop & Baird, 2001). Udhnani

and colleagues (2019) did not find a significant relation between Nonverbal IQ and CCC-

2 pragmatic communication for children with ASD. Additionally, in contrast to the

findings of Lee et al. (2017) and Udhnani et al. (2019), Smith and colleagues (2017) did

not find a significant relation between nonverbal ability and pragmatic ability for children

with DS. The study by Lee and colleagues (2017) was longitudinal, with three time points

and a sample of 22 children. The Smith et al. study (2017) had a sample of 26 children

while Udhnani and colleagues (2019) had a sample of 41 children. It is possible the

smaller sample with only one time of data collection had insufficient power. In addition,

Lee et al. (2017) stated they found the relation differed based on type of assessment and

type of pragmatic skill.

Language Form and Content Ability

Findings from studies addressing the relation between language form and content

ability and pragmatic communication ability also are mixed. When language form and

content was measured by a composite of the CCC Syntax and Speech scales, Spanoudis,

Natsopoulos and Panayiotou (2007) found a positive relation with CCC pragmatic

communication ability for both TD children and children with pragmatic language

impairment (PLI). Additionally, in a group of children with normal Nonverbal IQ (both

6

TD and with ADHD) a positive relation between language form and content ability as

measured by the Clinical Evaluation of Language Fundamentals-4 (CEL-4; Semel, Wiig,

& Secord, 2013) and CCC-2 pragmatic communication ability was found (Timler, 2014).

Lee et al. (2007) found a positive relation between language form and content ability as

measured by the CASL and performance on the CASL Pragmatic Judgment scale for

children with DS.

However, other studies did not find a significant relation. Leonard and colleagues

(2011) did not find a significant relation between language form and content ability, as

measured by the Oral and Written Language Scales (OWLS; Carrowfolk, 1995) Listening

Comprehension subtest or the OWLS Oral Expression subtest and CCC-2 pragmatic

communication ability in children with ADHD. Spanoudis et al. (2007) did not find a

significant relation between CCC structural language ability and CCC pragmatic

communication ability for children with SLI. Smith et al. (2017) did not find a significant

relation between CCC-2 pragmatic communication ability and either expressive

vocabulary ability or receptive vocabulary ability for children with DS, perhaps due to

limited power as a result of small sample size.

Behavior and Emotion Regulation

Behavior regulation encompasses the behaviors (e.g., impulse control) that allow

a child to child make socially appropriate behavioral responses. Studies that have

addressed the relation of behavior and emotional regulation (typically as measured by

level of behavior and emotional problems) to CCC-2 pragmatic communication have

found a significant negative relation, that is, higher levels of behavior and emotional

problems were associated with lower pragmatic communication ability. Leonard et al.

7

(2011) found that for TD children, level of behavior and emotional problems was

negatively correlated with CCC-2 pragmatic communication composite. Helland,

Lundervold, Heimann, and Posserud (2014) found that for a group of children with

externalizing behavior problems at age 7 – 9 years, level of externalizing behavior at that

age was significantly negatively correlated with CCC-2 Pragmatic Communication

ability at 12 – 15 years of age. Helland and Helland (2017) found that overall level of

behavior and emotional problems was negatively correlated with CCC-2 pragmatic

communication ability for both children with SLI and children with ASD who did not

have ID. Bignell and Cain (2007) found that children with hyperactivity and/or

inattention scored significantly lower on the CCC-2 pragmatic communication composite

than children who did not have attention problems. Geurts and Embrechts (2008) found

that for 4 – 7-year-olds with ASD or SLI, higher levels of impulsivity were significantly

associated with lower scaled scores on the CCC-2 Initiation, Use of Context, Nonverbal

Communication, and Social Relations scales. In contrast, higher levels of inattention or

hyperactivity were not significantly related to CCC-2 scaled scores for any scale except

Stereotyped Language.

Sex

Sex differences in the performance of TD children on the CCC-2 are frequently

found in studies that include large sample sizes. Based on a sample of 1351 children (678

boys, 673 girls) in the Netherlands, Ketelaars et al. (2010) found that girls scored

significantly better than boys on each of the CCC scales. Geurts et al. (2009) found that

girls (N = 883) scored significantly better than boys (N = 1,187) on seven of the ten CCC

scales, although boys scored significantly better that girls on the Speech and Syntax

8

scales and there was no significant difference between the performance of boys and girls

on the Coherence scale. Each of the reported effect sizes was small. Ash and colleagues

(2017) found that girls (N = 83) scored significantly better than boys (N = 125) on a

pragmatic composite that included CCC-2 scales D – H.

In two studies of TD children that included much smaller sample sizes, no

significant sex differences were found for CCC-2 scores. Helland et al. (2014) found no

significant difference in performance of boys and girls on the CCC-2 GCC composite

score, and Laws and Bishop (2001) reported that there were no significant differences

between boys and girls on any of the CCC-2 scales. All the CCC-2 studies involving

atypical populations have included small sample sizes. In the few cases where sex

differences were evaluated statistically, no significant differences were found either

between boys and girls with DS (Laws & Bishop, 2004; Lee et al., 2017) or between boys

and girls with SLI (Laws & Bishop, 2004).

Predictors of Pragmatic Communication

There has been a limited number of studies that focus on potential predictors of

CCC-2 pragmatic communication or on CCC-2 pragmatic communication as a mediator.

Leonard et al. (2011), in a community sample of 54 children aged 9 – 11 years, found that

pragmatic communication completely mediated the relation between hyperactivity and

social skills and partially mediated the relation between inattention and social skills.

Predictors of CCC-2 pragmatic communication ability were considered in three

studies conducted by Udhnani and colleagues. In the first study Udhnani et al. (2018)

included chronological age (CA), nonverbal IQ, and the Behavior Regulation Index

(BRI) and the Metacognitive Index (MCI) from the Behavior Rating Inventory of

9

Executive Function (BRIEF; Gioia, Isquith, Guy, & Kenworthy, 2000) as predictors.

Participants were 24 children with sex aneuploidies (14 girls with trisomy X syndrome

and 10 boys with Klinefelter syndrome). Only the BRIEF BRI contributed a significant

amount of unique variance to individual differences in CCC-2 pragmatic communication

composite. In the second study, Udhnani and colleagues (2020) included the BRIEF BRI

and MCI as predictors of CCC-2 pragmatic communication ability for 91 children with

ASD. The BRI and the MCI each contributed a significant amount of unique variance to

individual differences in CCC-2 pragmatic communication composite. In the third study,

Udhnani and colleagues (2020) included the BRIEF-2 (Gioia, Isquith, Guy, &

Kenworthy, 2015) BRI and BRIEF-2 Cognitive Regulation Index (CRI) as predictors of

the CCC-2 pragmatic communication abilities of 41 children with DS. Although the

overall model accounted for a significant amount of variance in CCC-2 pragmatic

communication scores, the BRI only contributed a marginally significant (p = .06)

amount of unique variance and the CRI did not contribute significantly to individual

differences in CCC-2 pragmatic communication ability.

Lane and colleagues (2019) conducted a regression analysis in a sample of 31

children (17 boys, 14 girls) with Sotos syndrome using Language Form and Content

skills (sum of scaled scores for CCC-2 scales A – D), CA, and sex as the predictors.

Results indicated that Language Form and Content ability and CA were significant

predictors whereas sex was not, with higher Language Form and Content performance

and younger CA predicting better pragmatic communication ability. Overall, the

predictors accounted for 65% of the variance in Pragmatic Language Composite.

10

Williams Syndrome

Williams syndrome (WS) is a neurodevelopmental disorder resulting from a

hemideletion of 26 – 28 genes on chromosome 7q11.23 (Hillier et al., 2003) and has a

prevalence of one in 7,500 live births (Strømme, Bjørnstad, & Ramstad, 2002). WS is

characterized by mild to moderate ID or learning difficulties, dysmorphic facial features,

and heart disease (Morris, 2006). Individuals with WS are often described as being

gregarious and overly friendly (Gosch & Pankau, 1997) and highly sociable (Dilts,

Morris, & Leonard, 1990); however, they struggle to make meaningful social connections

and have difficulty maintaining friendships (Davies, Udwin, & Howlin, 1998; Sullivan,

Winner, & Tager-Flusberg, 2003; Tager-Flusberg & Sullivan, 2000). The combination of

having a keen interest in other people and being outgoing and affectionate, yet struggling

with social relationships, presents a challenge for many individuals with WS.

Intellectual Ability

WS is also associated with a cognitive profile characterized by relative strengths

in verbal short-term memory, concrete language, phonological processing, and nonverbal

reasoning, along with considerable weakness in visuospatial construction (Mervis et al.,

2000; Mervis & Greiner de Magalhães, in press; Mervis & John, 2010). The Differential

Ability Scales-II (DAS-II; Elliott, 2007) can be used to unveil the pattern of relative

intellectual strengths and weaknesses masked by a global intelligence score. The mean

DAS-II General Conceptual Ability (GCA; similar to IQ) is in the mild ID range, with the

full range of ability spanning severe ID to average intellectual ability. Mean Verbal

standard score (SS) and mean Nonverbal Reasoning SS are in the borderline intellectual

ability range. In contrast, mean Spatial SS is in the mild to moderate ID range.

11

Language Form and Content Ability

Based on their initial study of three adolescents with WS, Bellugi, Marks, Bihrle,

and Sabo (1988) argued that individuals with WS had near-normal grammatical abilities,

which contrasted strongly with their intellectual abilities, which were described as in the

severe ID range. The comparison group in that study was composed of three adolescents

with DS matched for CA and IQ. This finding that language was “intact” was due to the

contrast of children with WS to children with DS. Currently, it is understood that children

with DS have more difficulty than expected with language relative to cognitive ability

and not that children with WS have near-normal grammatical ability (Mervis, 1999;

Mervis et al., 2004). Udwin, Yule, and Martin (1987) found that for children with WS,

grammatical ability was at the same level as that of CA- and IQ-matched children with

ID. Grammatical ability is more strongly correlated with verbal working memory for

individuals with WS than for TD children (Mervis & John, 2010). While language is

often considered a relative strength for individuals with WS, there is still a specific

pattern of relative strength and weakness in vocabulary ability (Mervis & Greiner de

Magalhães, in press). Concrete vocabulary (names for objects, actions, and descriptors) is

a relative strength. In contrast, relational vocabulary (labels for spatial, temporal, and

quantitative concepts and comparative adjectives) is considerably weaker, with SSs

similar to those for spatial ability.

Behavior Regulation

Across a variety of cultures, parents of children with WS consistently report

attention problems as of serious concern (Pérez-García, Brun-Gasca, Pérez-Jurado, &

Mervis, 2017). Almost two-thirds of a sample of 119 children aged 4 – 16 years met full

12

DSM-IV criteria for Attention Deficit Hyperactivity Disorder (Leyfer et al., 2006).

Additionally, studies utilizing the parent-report BRIEF (Gioia et al., 2000) have identified

difficulties in both behavioral regulation (e.g., John & Mervis, 2010; Pitts, Klein-Tasman,

Osborne, & Mervis, 2016) and metacognition (e.g., John & Mervis, 2010). Laboratory

assessments of behavioral inhibition have also indicated difficulties (Carney, Brown, &

Henry, 2013; Tager-Flusberg, Sullivan, & Boshart, 1997).

Sex Differences

Very few studies have compared the performance of boys and girls with WS.

Based on parental report but not based on teacher report on the Social Skills Rating Scale

(Gresham & Elliott, 1990), boys (N = 36) had fewer social communication difficulties

than girls (N = 48) (Klein-Tasman, Li-Barber, & Magargee, 2011). On the Social

Responsiveness Scale (SRS; Constantino & Gruber 2005) the raw scores of males and

females were not significantly different. However, the T-scores for males were

significantly lower than for females on all scales based on both parent and teacher report,

indicating that relative to same-sex children in the SRS norming sample, males with WS

had significantly less difficulty than females on all scales (Klein-Tasman et al., 2011).

Laws and Bishop (2004) did not find any significant differences in raw scores between

males (N = 15) and females (N = 4) with WS on any of the CCC scales.

Pragmatic Communication

Although individuals with WS are often characterized as hypersocial, they often

also present with social communication (pragmatics) problems (Stojanovik & James,

2006). The pragmatics abilities of individuals with WS have been assessed using semi-

13

structured conversations, standardized assessments, laboratory experiments, and parent-

report measures including the CCC-2.

The Autism Diagnostic Observation Schedule (ADOS-2; Lord et al.) has been

used in several studies to examine the social-communicative abilities of children with

WS. Lincoln et al. (2007) conducted a study with 20 preschoolers with limited or no

expressive language and found that they had difficulties in several areas of triadic

interaction (e.g., pointing and gesturing, initiating joint attention). In contrast, several

areas of dyadic interaction (shared enjoyment, facial expressions, vocalizations, and eye

contact) were not problematic. Klein-Tasman et al. (2007), in a study of 29 preschoolers

with limited or no expressive language, also identified difficulties in triadic joint attention

but not in dyadic joint attention as well as abnormalities in play behavior and repetitive

and restricted interests. In that study, almost half the participants met or exceeded

criterion for classification as autism spectrum. (Note that classification as autism

spectrum on the ADOS does not by itself indicate that the child has ASD; expert clinician

judgment – not included as part of this study – that the child has ASD is also needed to

make an ASD diagnosis.) Klein-Tasman van der Fluit, and Mervis (2018) completed the

ADOS-2 with 40 children with WS aged 3 – 15 years whose language included at least

phrase speech but was not fluent and complex. More than half of this sample

demonstrated difficulties with relatively complex triadic behaviors such as conversation,

directed facial expressions, and showing along with difficulties with sensory interests,

repetitive or restrictive behavior, and autism-related mannerisms. However, most

participants did not have difficulty with more basic triadic behaviors such as initiation or

response to joint attention. The ADOS-2 also was administered to 60 children aged 5 – 15

14

years who spoke in fluent, complex sentences. More than half the sample showed

abnormalities in complex triadic behaviors such as empathy/comments on others’

emotions and insight but did not show abnormalities on less complex triadic behaviors.

Across the two groups, 32% met or exceeded criterion for autism spectrum classification.

Across these studies, social communication difficulties were very common. In a separate

longitudinal study of language development by children with WS (Becerra & Mervis,

2019), 19% of the 47 participants had received a gold standard ASD diagnosis by age 5

years.

Studies using other measures also have identified pragmatic difficulties in

preschool children with WS. Using the Pragmatics Profile of Early Communication Skills

(Dewart & Summers, 1995), Stojanovik and James (2006) found that social

communication was more delayed than cognitive and motor skills in a case study of a

toddler with WS aged 21 months. Findings from another study of toddlers and

preschoolers with WS aged 17 – 55 months indicated that only one of the toddlers with

WS produced referential pointing gestures even in a situation that was designed to elicit

this type of gesture (Laing et al., 2002).

The use of play sessions provides another opportunity to observe the use of

pragmatic language by older children. John, Dobson, Thomas, and Mervis (2012)

considered mother-child play sessions with 14 children with WS at two different ages

(Time 1: 4 years; Time 2: 9 – 12 years). Results indicated that both the ability to pair eye

contact and verbalizations at age 4 years and expressive vocabulary ability at 4 years

predicted the ability to add meaningful information to a conversation at age 9 – 12 years

old.

15

John, Rowe, and Mervis (2009), using an experimental task, found that 6 – 12-

year-olds with WS had difficulty with referential communication. In particular, when the

experimenter provided a message that was inadequate for the child to determine the

picture to which the experimenter was referring, children indicated that the message was

problematic less than half of the time. Consistent with these findings, Stojanovik (2006)

reported that 7 – 12-year-olds with WS had difficulty with conversational exchange and

turn-taking and that the content of their conversational responses to the researcher tended

either to be inadequate or inappropriate.

There have been three studies that used the CCC or CCC-2 to study the language

of individuals with WS. Laws and Bishop (2004) compared the CCC performance of 19

individuals with WS aged 6 – 24 years to similarly-aged individuals with DS,

considerably younger children with SLI, and considerably younger TD children. When

compared to the individuals with SLI and DS, individuals with WS earned significantly

better raw scores on the Syntax scale. Their mean raw score on this scale did not differ

significantly from the mean score for the much-younger TD group. The WS group

scored considerably worse than the TD group on all the other scales. On the Speech scale,

the WS group scored significantly better than the DS group. Individuals with WS earned

the worst Pragmatic Composite raw score (based on CCC scales C – G) of all four

groups. Approximately 79% of individuals with WS met the CCC cut-off for pragmatic

language impairment. The WS group scored significantly worse than each of the other

groups on the Inappropriate Initiation and Stereotyped Conversation scales and

significantly worse than the much-younger SLI and TD groups on the Use of Context

scale. The difficulty with Inappropriate Initiation identified in this study is consistent with

16

the behavioral description of individuals with WS having limited social inhibition

(Davies et al. 1998; Klein-Tasman et al., 2010; Udwin, 1990). In addition, Laws and

Bishop reported that individuals with WS were rated as being babied, bullied, or teased

more often than the other groups of participants.

In the second study, Philofsky and colleagues (2007) compared 21 children with

WS (M age = 9.1 years, SD = 2.2, range = 6.2 – 12.5) to 22 children with ASD (M age 9.6

years, SD = 1.7, range = 7.1 – 12.10). All participants spoke in full sentences. The mean

GCC raw score (sum of scaled scores for CCC-2 scales A – H) for the children with WS

was 32.3 (SD = 12.1, range = 8 – 28). This score is in the language impairment range.

(GCC raw scores of 55 or higher are considered within normal limits, while scores below

55 are considered indicative of some type of language impairment.) The mean pragmatic

composite (sum of scaled scores for CCC-2 scales E – H) was 15.8 (SD = 5) with a range

from 8 – 28, indicating that most of the participants had difficulty with pragmatic

communication. (Pragmatic composite scores between 17 and 24 indicate borderline

pragmatic language functioning, and scores below 17 indicate impaired pragmatic

language functioning.) The SIDI mean was -6 (SD = 8, range = -17 – 15), which is in the

typical range for the standardization sample. (SIDI scores lower than -11 are consistent

with an ASD pragmatic profile, scores between -10 and 10 are considered to be in the

typical performance range, and scores of +11 or higher are consistent with an SLI

profile.) Using raw subscale scores and controlling for expressing language age

equivalent, the children with WS performed significantly better than the children with

ASD on the Coherence, Stereotyped Language, Nonverbal Communication, and Social

17

Relations scales. On the remaining subscales, the two groups did not differ significantly

from each other.

Lane et al. (2019) studied 34 children with WS (M age = 9.4 years, SD = 3.33,

range 4 – 16.75). CCC-2 GCC raw scores ranged from 4 – 60 (M = 26.82, SD = 10.60).

Only one participant scored at least 55; the remaining 33 participants scored in the

impairment range. The mean sum of scaled scores on the Language Form and Content

scales (scales A - D) was 13.97 (SD = 7.11). Mean scaled score for the Speech scale was

nominally higher than the mean scaled score for each of the other three structural scales,

but no statistical analysis comparing these means was reported. The mean sum of scaled

scores for the pragmatic scales (scales E – H) was 12.85 (SD = 5.85). Children with WS

scored nominally lower on the Context scale than on the other three pragmatics scales,

but no statistical analysis comparing these means was reported. The mean scores for the

two Social scales (I – J) did not differ significantly. To identify the predictors of

pragmatic language (sum of scaled scores for CCC-2 scales E – H), Lane and colleagues

conducted a regression analysis with Language Form and Content skills (sum of scaled

scores for CCC-2 scales A – D), CA, and sex as the predictors. Results indicated that

Language Form and Content ability and CA were significant predictors whereas sex was

not, with higher Language Form and Content performance and lower CA predicting

better pragmatic communication ability. Note that the negative relation between CA and

pragmatic communication ability obtained even though scaled scores (which are age-

adjusted) were used to measure pragmatic ability, indicating that older children with WS

perform worse than younger children with WS relative to same-aged children in the

18

standardization sample. Overall, the predictors accounted for 25% of the variance in

Pragmatic Language Composite.

7q11.23 Duplication Syndrome (Dup7)

Dup7 is a genetic disorder resulting from an extra copy of the same set of genes as

is deleted in WS (Somerville et al., 2005). The estimated prevalence of Dup7 is 1 in

7,500 births (Velleman & Mervis, 2011). Dup7 is characterized by developmental delay,

ASD, speech and language delay/disorder, social anxiety disorder and selective mutism,

dysmorphic facial features, macrocephaly, hypotonia, and decreased pain sensitivity

(Mervis et al., 2015; Morris et al., 2015). The first case of Dup7 was identified in late

2004 and reported in 2005 (Somerville et al., 2005). Due to the recent recognition of this

syndrome, there are very few studies of individuals with Dup7.

Intellectual Ability

On average, individuals with Dup7 demonstrate low average overall intellectual

ability, with a range from severe ID to high average ability (Mervis et al., 2015). The

cognitive profile of children with Dup7 is variable, but the most common profile is flat,

with no significant differences in DAS-II Verbal, Nonverbal Reasoning, and Spatial SSs.

On the Mullen Scales of Early Learning (MSEL; Mullen, 1995) toddlers and young

preschoolers with Dup7 earned significantly lower T-scores on the Expressive Language

scale than on the Receptive Language or Visual Reception (nonverbal reasoning) scales

(Mervis et al., 2015).

Language Form and Content Ability

Speech problems and language delay are hallmarks of Dup7 (Morris et al., 2015;

Somerville et al., 2005). Speech articulation ability is considerably worse than expected

19

for overall intellectual ability (Huffman, 2019). Mean SS for receptive vocabulary ability

as measured by the Peabody Picture Vocabulary Test-4 (PPVT-4; Dunn & Dunn, 2007)

was in the average range, with mean SS for the Expressive Vocabulary Test-2 (EVT-2;

Williams, 2007) in the low average range (Mervis et al., 2015). For both measures,

performance spanned the severe disability to high average range. Grammatical

development is considerably more delayed than vocabulary development (Velleman &

Mervis, 2011).

Behavior and Emotion Regulation

Individuals with Dup7 present as shyer and more socially inhibited than children

with WS (Velleman & Mervis, 2011). Approximately three-fourths of individuals with

Dup7 have at least one anxiety disorder diagnosis (Mervis et al., 2015), with the most

prevalent disorders being specific phobia, social phobia, and selective mutism. Avoidance

of interaction with new people is likely secondary to anxiety and language problems

(Velleman & Mervis, 2011). Approximately one-third of children with Dup7 met full

DSM-IV criteria for ADHD and approximately one fourth met full DSM-IV criteria for

oppositional defiant disorder or disruptive behavior disorder – not otherwise specified

(Mervis et al., 2015).

Sex Differences

None of the studies of children with Dup7 has assessed whether sex differences

are present.

Pragmatic Communication Ability

The only study that has addressed pragmatic ability in children with Dup7 is

Klein-Tasman and Mervis (2018), who used the ADOS-2 to investigate the social-

20

communicative skills of 63 4 – 17-year-olds with Dup7 (mean CA: 8.81 years, SD =

3.91). Most of the 21 children who used phrase speech or simple sentences did not

demonstrate difficulty with unusual eye contact, pointing, requesting, or initiating or

responding to joint attention. In contrast, more than half of them demonstrated problems

with overall level of language, speech abnormalities associated with autism,

conversation, more advanced gestures, overall quality of rapport, imagination/creativity,

and anxiety. Most of the 33 children who used fluent, complex language did not

demonstrate difficulty with overall level of language, offering information, coordinating

language with nonverbal communication, shared enjoyment, or social overtures. In

contrast, more than half of them demonstrated difficulties with asking for information,

empathy, insight, and overall quality of rapport. Across all ADOS-2 modules, overall

rapport was a difficulty for approximately half of the sample. Klein-Tasman and Mervis

(2018) did include expert clinical judgment in this study in addition to administering the

ADOS-2, allowing for gold-standard DSM-IV diagnosis of ASD. Nineteen percent of the

participants were diagnosed with ASD. Elevated rates of ASD based on less rigorous

procedures also have been reported in other studies (Earhart et al., 2017; van der Aa et al.,

2009). In socially comfortable settings, individuals with Dup7 often show appropriate

pragmatic skills (Velleman & Mervis, 2011). There have been no publications reporting

the performance of children with Dup7 on the CCC-2.

Present Dissertation

Appraising the language of children with WS and Dup7 will help in understanding

communication difficulties encountered by children with these syndromes. Three

research questions were addressed in this dissertation. The first research question was,

21

what is the overall level of language and communication ability as measured by the CCC-

2 for each syndrome, relative to CA expectations? The second research question was,

what is the pattern of relative strengths and weaknesses in language form and content,

pragmatic communication, and ASD-related behaviors for each syndrome? The final

question was, what are the concurrent predictors of pragmatic communication ability for

each syndrome? The answers to these questions will allow for a preliminary

consideration of the impact of gene dosage of one or more of the genes in the WS region

on language and communication ability.

In the next chapter, the methods for the dissertation are presented. In Chapter III, I

present the findings from the parental-report of their child’s language abilities as

measured by the CCC-2, allowing for a description of children’s language and

communication abilities, including relative strengths and weaknesses. Performance on a

variety of potential concurrent predictors of pragmatic communication ability, including

parental report of behavioral regulation and emotional regulation and direct assessment of

nonverbal reasoning ability, also are reported. Finally, separate linear multiple regressions

addressing concurrent predictors of pragmatic communication ability for children with

WS and children with Dup7 are presented. Chapter IV provides an overall discussion of

the findings.

22

CHAPTER II

METHOD

As stated in the previous chapter, the current dissertation had three main goals.

The first goal was to examine the overall level of language and communication ability as

measured by the CCC-2 for children with WS and children with Dup7 relative to CA

expectations. The second research goal was to determine the pattern of relative strengths

and weaknesses in language form and content, pragmatic communication, and ASD-

related behaviors for both children with WS and children with Dup7. The final goal was

to identify the concurrent predictors of pragmatic communication ability for children with

each of the two syndromes.

Participants with Williams Syndrome

All participants with WS were recruited for a larger study of language, cognitive,

and behavioral development conducted at the University of Louisville. Between October

2004 and June 2019, 252 children with classic WS (deletion of the 26 – 28 genes in the

Williams syndrome region on chromosome 7q11.23) aged 6.00 – 15.50 years completed

the assessment protocol used in the dissertation. Four of these children (two females, two

males; ages 6.38 – 9.29 years) were excluded because they did not reliably produce

spontaneous word combinations, so they did not meet the minimum language

requirement for the CCC-2. One additional male was excluded because he also had fetal

alcohol syndrome. The final WS sample for this dissertation was composed of the

remaining 247 children (126 females, 121 males), who ranged in age from 6.01 – 15.50

23

years (M = 10.57 years, SD = 2.96, Mdn = 10.28). Many of the children were

participating in a longitudinal study and therefore completed the assessment protocol

more than once (with at least 12 months between assessments). For these children, the

most recent set of data within the 6.00 – 15.50-year age range was used. For the 203

participants (82.19% of the full sample) who also completed the DAS-II (Elliott, 2007) as

part of their larger assessment, mean GCA (similar to IQ) was 63.23 (SD = 13.49, range:

28 – 96). The GCAs of the four children who were excluded because they were not

reliably producing spontaneous word combinations ranged from 30 – 35.

At the time of their assessment, English was the primary language of all

participants. However, one child (who was adopted internationally as a toddler) was

initially exposed only to a different language, and 11 children had been exposed to

another language (either solely or in addition to English) at home beginning from birth.

The racial-ethnic breakdown of the sample was: 81.8% White non-Hispanic, 6.9% White

Hispanic, 1.2% African-American non-Hispanic, 2.4% Asian non-Hispanic, 6.1%

multiracial non-Hispanic, and 1.6% multiracial Hispanic. The sample included children

living in 38 U. S. states, 2 Canadian provinces, and the United Kingdom. All four U. S.

census regions were represented: Northeast (19.0%), South (36.4%), Midwest (28.9%),

and West (14.6%), as well as Canada and the United Kingdom (2.0%).

Participants with 7q11.23 Duplication Syndrome

The assessment protocol used in this dissertation was administered to 59 children

with genetically-confirmed classic Dup7 (duplication of the 26 – 28 genes that are

deleted in classic WS) aged 6.08 – 15.29 years. These children were assessed between

January 2005 and October 2016. Three of them (one female, two males; ages 6.04 – 8.84

24

years) were excluded because they did not reliably produce spontaneous word

combinations so did not meet the minimum language requirement for the CCC-2. The

final Dup7 sample for this dissertation was composed of the remaining 56 children (28

females, 28 males), who ranged in age from 6.08 – 15.29 years (M = 10.33 years, SD =

2.82, Mdn = 10.20). For the few participants who were followed longitudinally and

therefore completed the assessment protocol more than once (with at least 12 months

between assessments), the most recent set of data within the 6.00 – 15.50-year age range

was used. All 56 participants completed the DAS-II (Elliott, 2007) as part of their

assessment. Mean GCA was 83.43 (SD = 16.17, range: 39 – 132). The GCAs of the three

children who were excluded because they were not reliably producing word combinations

ranged from 39 – 42.

At the time of their assessment, English was the primary language of all

participants. However, English was the second language to which one child was exposed.

The racial-ethnic breakdown of the sample was: 76.8% White non-Hispanic, 3.6% White

Hispanic, 5.4% African-American non-Hispanic, 3.6% Asian non-Hispanic, 7.1%

multiracial non-Hispanic, and 3.6% multiracial Hispanic. The sample included children

living in 23 U. S. states, 1 Canadian province, and the United Kingdom. All four U. S.

census regions were represented: Northeast (16.1%), South (32.1%), Midwest (30.4%),

West (17.9%), as well as Canada and the United Kingdom (3.6%).

Measures

Children’s Communication Checklist-2 United States edition (Bishop, 2006).

The CCC-2 is a 70-item questionnaire designed to assess children's communication skills.

The CCC-2 is normed for children aged 4.00 to 16.99 years who produce spontaneous

25

word combinations. As indicated in Chapter I, the CCC-2 is often used to measure the

communicative abilities of children with developmental disabilities. The American

version of the CCC-2 is designed for children whose primary language is English. The

rater is asked to indicate the frequency the behavior described in an item is observed in

the child, using the following scale: 0 (less than once a week or never), 1 (at least once a

week but not every day, or occasionally), 2 (once or twice daily, or frequently), 3 (several

times a day - more than twice; or always).

The CCC-2 includes 10 scales. The first four measure language form and content:

A. Speech, B. Syntax, C. Semantics, and D. Coherence, The second four measure

pragmatic aspects of communication: E. Initiation, F. Stereotyped Language, G. Use of

Context, and H. Nonverbal Communication. The last two scales address social

characteristics that often are associated with ASD: I. Social Relations and J. Interests.

Each scale includes seven items: five that address difficulties a child may have and two

that address possible strengths. For scoring purposes, items measuring possible strengths

are reverse-coded, so that lower raw scores indicate better performance for all items

included in the CCC-2. Examples of the items on each scale are provided in Table 1.

26

Table 1

Examples of CCC-2 Items Measuring Communication Difficulty or Strength as a Function of

CCC-2 Scale

Scale Item Focused on Difficulty Item Focused on Strength

Speech Simplifies words by leaving out some

sounds.

Speaks fluently and clearly, producing

all speech sounds and without any

hesitation.

Syntax Leaves out “is.”

Produces sentences containing

“because” such as “John got a cake

because it was his birthday.”

Semantics Is vague in a choice of words, making

it unclear what s/he is talking about,

e.g., saying “that thing” rather than

“pan.”

Uses abstract words that refer to

general concepts rather than something

you can see, e.g., knowledge, politics,

courage.

Coherence Confuses a sequence of events when

trying to tell a story or describe a

recent event.

Talks clearly about what s/he plans to

do in the future (e.g., what s/he will do

tomorrow or plans for going on

vacation)

Initiation Talks to people without any

encouragement or starts conversations

with strangers.

Talks to others about their interests.

Stereotyped

Language

Repeats phrases said by an adult. You can have enjoyable, interesting

conversations with him or her.

Context Talks easily with one familiar adult,

but has difficulty expressing

himself/herself in a group of children.

Appreciates the humor expressed by

irony, e.g., would be amused rather

than confused if someone said, “Isn’t it

a nice day” when it was raining.

Nonverbal

Communication

Looks blank in a situation where most

children would show a clear facial

expression.

Smiles appropriately when talking

with people.

Social Relations Is babied, teased or bullied by other

children.

Shows concern when other people are

upset.

Interests Moves the conversation to a favorite

topic, even if others are not interested

in it.

Reacts positively when a new and

unfamiliar activity is suggested.

An age-standardized scaled score (M = 10, SD = 3) can be derived from the raw

score for each scale. The General Communication Composite (GCC) is the sum of the

scaled scores for scales A – H. The GCC SS is derived from this sum. To determine if a

27

child demonstrates ASD-type communication problems or SLI-type language form and

content problems, a Social Interaction Difference Index (SIDI) may be calculated by

adding the scaled scores for scales E, H, I, J and subtracting the sum of scaled scores for

scales A through D. Scores of -11 or lower are considered consistent with an ASD profile,

scores from -10 – 10 are considered typical, and scores of +11 or higher are considered

consistent with an SLI profile.

The United States version was normed on 950 children aged 4.00 – 16.99 years.

According to the CCC-2 U. S. edition manual (Bishop, 2006), for the full U. S. norming

sample, mean internal consistency for the GCC was .95, with a range from .94 to .96 for

the age bands included in the dissertation. For the full U. S. norming sample, average

internal consistency for the 10 scales ranged from .65 for J. Interests to .78 for A. Speech

and G. Context. For the age range in the present dissertation, internal consistency ranged

from .61 for 6-year-olds for J. Interests to .85 for E. Initiation and G. Context for 10- and

11-year olds.

Behavior Rating Inventory of Executive Functioning-2, parent form (BRIEF-

2; Gioia et al., 2015). The BRIEF-2 is a measure of executive function ability normed for

children aged 5 – 18 years. The BRIEF-2 parent-report form contains 63 items within

nine clinical scales: Inhibit, Self-Monitor, Shift, Emotional Control, Initiate, Working

Memory, Plan/Organize, Task Monitor, and Organization of Materials. The nine scales

are combined into three Indexes: Behavior Regulation Index (BRI), Emotion Regulation

Index (ERI), and Cognitive Regulation Index (CRI). The BRI and the ERI were used in

this dissertation. The BRI represents the child’s ability to regulate and monitor behavior

effectively. It is composed of the Inhibit and Self-Monitor scales. The ERI represents the

28

child’s ability to regulate emotional responses and to adjust to changes in the

environment, people, plans, or demands. It is composed of the Shift and Emotional

Control scales. Performance on the Indexes is measured by T scores, with a mean of 50

and a SD of 10. Higher scores indicate greater difficulty. The BRIEF-2 was normed on

1400 children (687 males,713 females) aged 5 – 18 years. The Parent Form test-retest

reliability is .83 for the BRI and .82 for the ERI (Gioia et al., 2015). For the participants

in this dissertation, the correlation between BRIEF BRI and BRIEF ERI was .65 for the

WS group and .50 for the Dup7 group. To reduce the number of independent variables

used in the regression analyses, a composite Behavioral and Emotional Functioning T-

score was computed by averaging the child’s BRI and ERI T-scores.

Participants’ parents completed the first edition of the BRIEF (Gioia et al., 2000).

All of the items on the BRIEF-2 that are included in the computation of T-scores are also

included in the first edition of the BRIEF, allowing BRIEF-2 T-scores to be computed

from administrations of the BRIEF. Following the test authors’ recommendation (L.

Kenworthy, personal communication to Carolyn Mervis, October 7, 2020), raw scores

from the relevant items on the BRIEF were used to compute BRIEF-2 T-scores.

Kaufman Brief Intelligence Test-2 (KBIT-2; Kaufman & Kaufman, 2004).

The KBIT-2 assesses verbal and nonverbal intelligence independently, providing a Verbal

SS, Nonverbal SS, and an IQ Composite. For this dissertation, only the nonverbal scale

was used. This scale measures matrix reasoning, so it is a measure of nonverbal reasoning

rather than overall nonverbal ability. The KBIT-2 is normed for individuals aged 4 – 90

years old. For the general population, the mean SS is 100 (SD = 15), with a range from 40

29

– 160. The Nonverbal SS demonstrated high internal consistency (α = .86) for the

norming sample.

Procedure

The protocol used for this study was reviewed and approved by the University of

Louisville Institutional Review Board. Parents signed an informed consent form and all

children provided either oral or written assent. The CCC-2 and BRIEF were mailed to the

parents prior to the scheduled assessment date. The mother was asked to fill these forms

out in advance and bring them with her to the assessment. Both questionnaires were

scored according to the standardized procedures. The KBIT-2 was administered to the

child by a trained examiner according to the standardized procedures and was scored

according to the standardized procedures.

Analyses

All analyses were completed in SPSS version 26. Data met all assumptions for the

analyses used.

To compare the performance of children with WS and children with Dup7 on the

CCC-2 scales, three mixed ANOVAs were conducted using the scaled scores for the

Language Form and Content Scales, Pragmatic Communication Scales, and Autism-

related Scales respectively as the within-subject factor and Syndrome and Sex as the

between-subject factors. For comparisons that included more than two CCC-2 scales, if

the main effect of CCC-2 Scale was significant, the Sidak adjustment for multiple

comparisons was used to compare scaled scores on each pair of scales. When significant

main effects were tempered by significant interactions, the interactions were interpreted

rather than the main effects. If the interaction of CCC-2 Scale and either Syndrome or

30

Sex was significant, it was followed up first with two repeated measures ANOVAs with

CCC-2 Scale as the dependent variable, one for each Syndrome (if the Scale X Syndrome

interaction was significant) or one for each Sex (if the Scale X Sex interaction was

significant). If the effect of the CCC-2 scale was significant, the Sidak adjustment was

used to identify significant differences in scaled scores between pairs of scales. Second,

the significant interaction was followed up by two sets of independent sample t-tests for

each of the CCC-2 scales, one set for each Syndrome or each Sex. The Bonferroni

correction for multiple comparisons was used to identify significant differences in scaled

scores on a particular CCC-2 scale as a function of Syndrome or Sex, with = .0125

(.05/4), 2-tailed for comparisons for the Language Form and Content or Pragmatic

Communication scales and = .025 (.05/2), 2-tailed for comparisons for the Autism-

related scales. For the comparisons involving GCC SS or SIDI as the dependent variable,

two-way ANOVAs were conducted with Syndrome and Sex as the between-subject

factors. Cohen’s d was used to measure effect size (.20 = small effect, .50 = medium

effect, .80 = large effect).

Due to the large difference in sample size between the WS group and the Dup7

group, it was important to confirm that it was appropriate to conduct ANOVAs that

included both syndromes and both sexes. To confirm that there were no significant

differences in variance between the two syndromes for any of the dependent variables to

be included in any of the ANOVAs, Levene’s test for equality of variances was

calculated for each dependent variable. None of the test statistics was significant; p

values ranged from .117 – .910. To confirm that the distribution of males and females

31

was similar for the two syndromes, a χ2 test was conducted. The test statistic was not

significant, χ2 (1, 303) = 0.019, p = .891.

32

As stated in the previous chapters, the current dissertation had three main goals.

The first goal was to examine the overall level of language and communication ability as

measured by the CCC-2 for children with WS and children with Dup7 relative to CA

expectations. The second goal was to determine the pattern of relative strengths and

weaknesses in language form and content, pragmatic communication, and ASD-related

behaviors for both children with WS and children with Dup7. The final goal was to

identify the concurrent predictors of pragmatic communication ability for children with

each of the two syndromes.

CCC-2: Descriptive Statistics and Correlations among Scaled Scores

Descriptive statistics for performance on the CCC-2 are shown in Table 2,

separately for each syndrome. As is clear from the table, there was considerable within-

syndrome variability in performance on each of the CCC-2 measures.

CHAPTER III

RESULTS

33

Table 2

Descriptive Statistics for Parents’ Ratings of the Performance of Children with Williams

Syndrome and 7q11.23 Duplication Syndrome on the Children’s Communication Checklist-2

WS Dup7

Scale or Composite Mean Median SD Range Mean Median SD Range

Form and Content

Speech 7.11 7.00 3.19 1a -13 4.32 3.50 3.00 1a - 12

Syntax 6.82 7.00 3.39 1a -12 6.20 6.50 3.69 1a - 12

Semantics 6.42 7.00 2.47 1a -13 6.38 6.00 2.96 1a - 13

Coherence 5.60 5.00 2.49 1a -13 5.57 5.00 2.55 1a - 13

Mean 6.49 6.50 2.33 1a -12.5 5.62 5.63 2.46 1a -10.25

Pragmatic

Communication

Initiation 5.33 5.00 2.57 1a -15 6.18 6.00 2.45 1a - 12

Scripted Language 7.20 8.00 2.44 1a -14 6.59 6.50 2.47 2 - 14

Context 5.40 5.00 2.36 1a -13 5.18 5.50 3.38 1a - 10

Nonverbal Comm. 6.74 7.00 2.41 2 -14 4.96 4.00 2.80 1a - 12

Mean 6.17 6.25 1.99 1a -13.50 5.73 5.63 2.00 1a -10.25

ASD-related

Social Relations 7.75 8.00 2.44 3 -13 5.16 5.00 2.63 1a - 13

Interests 6.82 6.00 2.86 1a -16 7.48 7.00 2.69 2 - 13

Overall

GCC 50.64 50.00 16.01 12 -104 45.98 44.00 15.95 13 - 82

CCC-2 Comp. SS 77.38 77.00 12.33 44 -124 73.18 73.00 12.36 45 - 102

SIDI 0.69 1.00 8.12 -21-22 1.30 2.50 9.45 -22- 22

Note: Scripted = Scripted Language; Context = Use of Context; Comm. = Communication; Comp. = Composite; SS =

Standard Score; ScS = Scaled Score; GCC = General Communication Composite; SIDI = Social Interaction Difference

Index; WS = Williams syndrome; Dup7 = 7q11.23 duplication syndrome

34

To determine relations between scaled scores on each of the 10 CCC-2 scales,

Pearson correlations were computed. Correlations are reported in Table 3 for children

with WS and Table 4 for children with Dup7. For these analyses, α was set at .01. As can

be seen in Table 3, all correlations between pairs of scaled scores were significant for

children with WS. For children with Dup7, most of the correlations were statistically

significant. For those that were not, the lack of statistical significance was most likely due

to limited power for all of the remaining correlations except for the correlations of

Speech and Syntax with Nonverbal Communication and Interests. That is, the magnitude

of all of the other correlations that were not statistically significant was similar or larger

than the magnitude of the smallest significant correlations for the WS sample. A

correlation also was computed for each syndrome between the mean scaled score for the

Language Form and Content scales and the mean scaled score for the Pragmatic

Communication scales. This correlation was r = .72 (p < .001) for the WS group and r

= .59 (p < .001) for the Dup7 group. To determine if the high correlations between the

mean scaled score for the Language Form and Content scales and the mean scaled score

for the Pragmatic Communication scales for the two groups were due to the relations of

each of these measures to overall intellectual ability, partial correlations controlling for

DAS-II GCA were computed. These correlations were r = .63 (p < .001) for the WS

group and r = .50 (p < .001) for the Dup7 group, indicating that the highly significant

relations between language form and content ability and pragmatic communication found

for both syndromes could not be attributed primarily to shared relations with overall

intellectual ability.

35

Table 3

Correlations between Scaled Scores on the CCC-2 Scales for Children with Williams

Syndrome

Scale A. B. C. D. E. F. G. H. I.

A. Speech

B. Syntax .65**

C. Semantics .50** .46**

D. Coherence .45** .49** .65**

E. Initiation .43** .44** .39** .45**

F. Scripted Language .43** .46** .51** .60** .47**

G. Context .45** .50** .57** .62** .57** .61**

H. Nonverbal Comm. .42** .52** .36** .48** .53** .55** .55**

I. Social Relations .27** .27** .31** .35** .38** .48** .48** .49**

J. Interests .31** .33** .30** .38** .66** .52** .50** .48** .54**

Note. Comm = Communication

**p ≤ .001

36

Table 4

Correlations between Scaled Scores on the CCC-2 Scales for Children with Duplication

7q11.23 Syndrome

Scale A. B. C D. E. F. G. H. I.

A. Speech

B. Syntax .60**

C. Semantics .41* .53**

D. Coherence .45** .52** .68**

E. Initiation .29 .24 .35* .46**

F. Scripted Language .28 .34* .49** .54** .45**

G. Context .35* .44** .50** .72** .41* .59**

H. Nonverbal Comm. .19 .17 .40** .54** .50** .51** .55**

I. Social Relations .31 .31 .54** .57** .48** .50** .57** .59**

J. Interests .16 .09 .33 .38* .61** .55** .52** .56** .60**

Note. Comm = Communication

*p ≤ .01, **p ≤ .001

Research Question 1: Overall Language Performance

The first research goal was to examine the overall level of language and

communication ability as measured by the CCC-2 for children with WS and children with

Dup7 relative to CA expectations. To address this research question, a two-way ANOVA

was conducted with CCC-2 Composite SS as the dependent variable and Syndrome and

Sex as the between-subject factors. Descriptive statistics for the CCC-2 Composite SS

and the SIDI are provided in Table 5, separately for each syndrome (first for all

individuals with that syndrome and then separately for girls and boys) and then for the

entire sample and for girls and boys within the entire sample. The main effect of

Syndrome was significant, F(1, 299) = 5.29, p = .022. η² = .02. The CCC-2 Composite

SS was significantly higher for children with WS than children with Dup7, d = .33.

37

Neither the main effect of Sex, F(1, 299) = 3.55, p = .061, η² = .01, nor the Sex X

Syndrome interaction, F(1, 299) = .81, p = .368, η² = .02 was statistically significant. The

significant effect of Syndrome, with the WS group’s mean GCC SS significantly higher

than the Dup7 group’s mean GCC SS, is particularly noteworthy given that mean DAS-II

GCA was significantly higher for the Dup7 group (M = 83.43, SD = 16.17) than the WS

group (M = 63.23, SD = 13.49), t(257) = 9.49, p < .001, d = 1.36, with a very large effect

size. In addition the mean DAS-II Verbal SS was significantly higher for the Dup7 group

(M = 85.25, SD = 16.77) than the WS group (M = 71.91, SD = 17.79), t(257) = 5.03, p

< .001, d = .77.

38

To further address the first research question, a two-way ANOVA was conducted

with CCC-2 SIDI as the dependent variable and Syndrome and Sex as the between-

subject factors. Neither the main effect of Syndrome, F(1, 299) = 0.29, p = .592, η² = .00

nor the main effect of Sex, F(1, 299) = 3.68, p = .056, η² = .01 was statistically

Table 5

Descriptive Statistics for the CCC-2 Composite Standard Score and the Social Interaction

Difference Index for Children with Williams Syndrome or 7q11.23 Duplication Syndrome

Composite SS SIDI

Sample N Mean SD Range Mean SD Range

WS

Full Sample 247 77.38 12.33 -44 - 24 0.69 8.12 -21 - 22

Girls 126 78.26 12.70 4 4 - 113 2.54 7.47 -20 - 22

Boys 121 76.47 11.92 -20 - 22 -1.24 8.34 -21 - 19

Dup7

Full Sample 56 73.18 12.36 45 - 102 1.30 9.45 -22 - 22

Girls 28 75.71 11.97 52 - 102 1.75 9.92 -18 - 22

Boys 28 70.64 12.43 45 - 93 .86 9.13 -22 - 15

Total

Full Sample 303 76.61 12.43 44 - 124 0.80 8.37 -22 - 22

Girls 154 77.80 12.57 44 - 113 2.40 7.94 -20 - 22

Boys 149 75.38 12.57 44 - 113 -0.85 8.50 -22 - 19

Note. CCC-2 = Children’s Communication Checklist-2; SS = Standard Score; SIDI = Social

Interaction Difference Index; WS = Williams syndrome; Dup7 = 7q11.23 duplication

syndrome.

39

significant. The Sex X Syndrome interaction also was not statistically significant, F(1,

299) = 1.41, p = .237, η² = .01.

The final analysis for Research Question 1 involved determination of the

proportion of children with each syndrome who met the CCC-2 criterion for language

impairment (CCC-2 Composite SS < 80, corresponding to GCC < 55). Based on this

criterion, 71.4% of the children with Dup7 and 60.3% of the children with WS had a

language impairment. A χ2 test was conducted to determine if there was a significant

difference in proportion of children with language impairment in the two groups. The

difference was not statistically significant, χ2 (1, 303) = 2.40, p = .121.

Research Question 2: Patterns of Relative Strengths

The second research goal was to determine the pattern of relative strengths and

weaknesses in language form and content, pragmatic communication, and ASD-related

behaviors for children with WS and children with Dup7 and to compare these patterns.

Findings for each of the three CCC-2 components are reported separately.

Language Form and Content Scales

Descriptive statistics for performance on each of the four Language Form and

Content scales are provided in Table 6 first for each syndrome and sex by syndrome, then

for the full sample of children and each sex. To determine if performance on the CCC-2

Language Form and Content Scales differed significantly as a function of Scale and/or

child Sex and/or Syndrome, a mixed ANOVA was conducted with Language Form and

Content Scale (Speech, Syntax, Semantics, Coherence) as the within-subject factor and

Sex and Syndrome as the between-subject factors. The Greenhouse-Geisser estimate of

departure from sphericity was ε = .86. Using the Greenhouse-Geisser correction, the main

40

effect of Form and Content Scale was significant, F(2.581, 771.84) = 9.71, p < .001, η²

= .03. The main effect of Syndrome also was significant, F(1, 299) = 6.27, p = .021. η²

= .02. These main effects were tempered by a significant interaction between Scale and

Syndrome, F(2.581, 771.84) = 18.98, p < .001, η² = .06 (see Figure 1), and a significant

interaction between Scale and Sex, F(2.581, 771.84) = 3.21, p = .02, η² = .01 (see Figure

2). The effect of the three-way interaction between Scale, Syndrome, and Sex was not

statistically significant, F(2.581, 771.84) = 1.37, p = .25, η² = .00. The main effect of Sex

also was not statistically significant, F(1, 299) = 2.20, p = .14, η² = .01.

Table 6

Descriptive Statistics for Parents’ Ratings of the Performance of Children with Williams Syndrome or 7q11.23 Duplication

Syndrome on the CCC-2 Language Form and Content Scales

Speech ScS Syntax ScS Semantics ScS Coherence ScS

Group Sample N Mean SD Range Mean SD Range Mean SD Range Mean SD Range

WS

Full Sample 247 7.11 3.19 1a - 12 6.82 3.39 1a - 13 6.42 2.47 1a - 13 5.60 2.49 1a - 13

Girls 126 7.26 3.26 1a - 12 7.14 3.43 1a -12 6.34 2.61 1a -13 5.41 2.48 1a - 13

Boys 121 6.96 3.11 1a - 13 6.49 3.32 1a -12 6.50 2.32 1a -13 5.79 2.49 1a - 13

Dup7

Full Sample 56 4.32 2.99 1a - 13 6.20 3.39 1a -12 6.37 2.96 1a - 13 5.57 2.55 1a - 13

Girls 28 4.68 3.36 1a - 12 6.89 3.62 1a - 12 7.21 2.79 3 -13 5.54 2.25 2 - 13

Boys 28 6.96 2.60 1a - 8 5.50 3.69 1a - 12 5.54 2.94 1a – 13 5.61 2.86 1a - 13

Total

Full Sample 303 6.60 3.33 1a - 13 6.71 3.45 1a - 12 6.41 2.56 1a - 13 5.59 2.49 1a - 13

Girls 154 6.78 3.42 1a - 12 7.10 3.46 1a - 12 6.50 2.65 1a - 13 5.44 2.43 1a - 13

Boys 149 6.40 3.23 1a - 13 6.30 3.40 1a - 12 6.32 3.40 1a - 13 5.76 2.55 1a - 13

Note. CCC-2 = Children’s Communication Checklist-2; ScS = scaled score; WS = Williams syndrome; Dup7 = 7q11.23 duplication syndrome.

aLowest possible scaled score.

41

42

Figure 1. Mean scaled scores for the CCC-2 Form and Content scales for children

with Williams syndrome and children with 7q11.23 duplication syndrome. Error bars

indicate the 95% confidence intervals.

0

1

2

3

4

5

6

7

8

Speech Syntax Semantics Coherence

Mea

n S

cale

Sco

re

CCC-2 Form and Content Scales

Williams Syndrome 7q11.23 Duplication Syndrome

43

Figure 2. Mean scaled scores for children with Williams syndrome for the CCC-2

Form and Function scales as a function of sex. Error bars indicate the 95% confidence

intervals.

The significant interaction between Scale and Syndrome was evaluated in two

different ways. First, the pattern of significant effects was examined separately for each

syndrome by conducting a separate one-way repeated measures ANOVA for each

syndrome, with Form and Content Scale as the within-subject variable. For the ANOVA

for children with WS, the Greenhouse-Geisser estimate of departure from sphericity was

ε = .84. Using the Greenhouse-Geisser correction, the effect of Scale was statistically

significant, F(2.55, 627.81) = 26.25, p < .001, η² = .10. Multiple comparisons using the

Sidak method, shown in Table 7, indicated that scaled scores for Speech, Syntax, and

Semantics were all significantly higher than scaled scores for Coherence. In addition,

scaled scores for Speech were significantly higher than scaled scores for Semantics. None

of the other pairwise differences was significant.

Speech Syntax Semantics Coherence

Mea

n S

cale

d S

core

CCC-2 Form and Content Scale

Female Male

44

Table 7

P values (Using Sidak Correction) and Cohen’s d Values for Pairwise Comparisons of Scaled

Scores on the CCC-2 Language Form and Content Scales as a Function of Syndrome

Syntax Semantics Coherence

Syndrome Scale Mean p d p d p d

WS

Speech 7.11 .436 .09 .001 .24 <.001 .52

Syntax 6.82 .247 .13 <.001 .40

Semantics 6.42 <.001 .33

Coherence 5.60

Dup7

Speech 4.32 <.001 .55 <.001 .69 .015 .45

Syntax 6.20 .999 .05 .627 .20

Semantics 6.38 .057 .30

Coherence 5.57

Note. WS = Williams syndrome; Dup7 = 7q11.23 duplication syndrome

For the ANOVA for children with Dup7, the Greenhouse-Geisser estimate of

departure from sphericity was ε = .88. Using the Greenhouse-Geisser correction, the

effect of Scale was significant, F(2.653, 145.92) = 10.66, p < .001, η² = .16. Sidak

comparisons, shown in Table 7, indicated a different pattern of significant differences

than had been found for children with WS. For children with Dup7, scaled scores for

Syntax, Semantics, and Coherence were all significantly higher than scaled scores for

45

Speech. None of the other pairwise comparisons between scaled scores was statistically

significant.

To further evaluate the significant Scale X Syndrome interaction, four t-tests were

conducted, one for each Form and Content scale, comparing the performance of children

with WS to the performance of children with Dup7. To control for multiple analyses, α

was set at .0125 (.05/4). Scaled scores for Speech were significantly higher for the WS

group than the Dup7 group, t(301) = 5.99, p < .001, d = .90. The between-syndrome

difference in scaled scores was not statistically significant for the Syntax [t(301) = 1.23, p

= .221, d = .18], Semantics [t(301) = 0.12, p = .904, d = .01], or Coherence [t(301) =

0.08, p = 0.940, d = .01] scales.

To evaluate the significant interaction between Scale and Sex, I first conducted a

separate one-way repeated measures ANOVA for each sex, with Language Form and

Content Scale as the within-subject variable. For females, the Greenhouse-Geisser

estimate of departure from sphericity was ε = .85. Using the Greenhouse-Geisser

correction, the ANOVA indicated a significant effect of Scale, F(2.56, 392.11) = 17.25, p

< .001, η² = .10. Multiple comparisons using the Sidak method, shown in Table 8,

indicated that scaled scores for Speech, Semantics, and Syntax were significantly higher

than scaled scores for Coherence. None of the remaining pairwise comparisons of scaled

scores was statistically significant.

46

Table 8

P values (Using Sidak Correction) and Cohen’s d Values for Pairwise Comparisons of Scaled

Scores on the CCC-2 Language Form and Content Scales as a Function of Sex

Syntax Semantics Coherence

Sex Scale Mean p d p d p d

Female

Speech 6.79 .786 .09 .863 .16 < .001 .45

Syntax 7.10 .110 .20 <.001 .54

Semantics 6.50 <.001 .42

Coherence 5.44

Male

Speech 6.40 .999 .03 1.0 .03 .067 .22

Syntax 6.30 1.0 .01 .154 .18

Semantics 6.32 .006 .23

Coherence 5.76

Note. ScS = scaled score

For males, the Greenhouse-Geisser estimate of departure from sphericity was ε

= .84. Using the Greenhouse-Geisser correction, the ANOVA indicated a significant

effect of Scale, F(2.53, 374.93) = 3.18, p = .031, η² = .02. Multiple comparisons using

the Sidak method, shown in Table 8, indicated that scaled scores for Semantics were

significantly higher than scaled scores for Coherence. None of the other pairwise

comparisons of scaled scores was statistically significant.

47

To further evaluate the significant Scale by Sex interaction, four t-tests were

conducted, one for each Language Form and Content scale, comparing the performance

of females to the performance of males. To control for multiple analyses, α was set

at .0125 (.05/4). The between-sex difference was not statistically significant for any of

these scales [for Speech, t(301) = 1.04, p = .301, d = .12; for Syntax, t(301) = 2.02, p

= .044, d = .23; for Semantics, t(301) = 0.60, p = .547, d = .07; for Coherence, t(301) =

1.13, p = .260, d = .13].

Pragmatic Communication Scales

Descriptive statistics for performance on each of the four Pragmatic

Communication scales are provided in Table 9 first for each syndrome and sex by

syndrome, then for the full sample of children and each sex. To determine if performance

on the CCC-2 Pragmatic Communication Scales differed significantly as a function of

Scale and/or child Sex and/or Syndrome, a mixed ANOVA was conducted with Pragmatic

Communication Scale (Initiation, Scripted Language, Context, Nonverbal

Communication) as the within-subject factor and Sex and Syndrome as the between-

subject factors. The Greenhouse-Geisser estimate of departure from sphericity was ε

= .97. Using the Greenhouse-Geisser correction, the main effect of Pragmatic

Communication Scale was significant, F(2.918, 872.392) = 30.28, p < .001, η² = .09.

This main effect was tempered by a significant interaction between Scale and Syndrome,

F(2.918, 872.392) = 19.49, p < .001, η² = .06 (see Figure 3). The main effect of

Syndrome was not statistically significant, F(1, 299) = 2.24, p = .136. η² = .007.

However, the main effect of Sex was statistically significant, F(1, 299) = 4.10 , p = .044,

η² = .01, with females earning significantly higher Pragmatic Communication Language

48

scaled scores (M = 6.24) than males (M = 5.65), d = .28. The interaction between Scale

and Sex, F(2.918, 872.392) = 1.16, p = .325, η² = .00 and the three-way interaction

between Scale, Syndrome, and Sex, F(2.918, 872.392) = 1.84, p = .140, η² = .01, were

not statistically significant.

Table 9

Descriptive Statistics for Parents’ Ratings of the Performance of Children with Williams Syndrome or 7q11.23 Duplication Syndrome on

the CCC-2 Pragmatic Scales

Initiation

ScS

Scripted Language

ScS

Context

ScS

Nonverbal Comm

ScS

Sample N Mean SD Range Mean SD Range Mean SD Range Mean SD Range

WS

Full Sample 247 7.11 3.43 1a - 13 6.82 3.39 1a -12 6.42 2.47 1a - 13 5.60 2.49 1a -13

Girls 154 5.92 2.62 1a -15 7.23 2.40 1a -13 5.46 2.42 1a -11 7.11 2.25 2 -13

Boys 149 4.72 2.37 1a -15 7.17 2.49 2 -14 5.35 2.28 1a -13 6.36 2.52 2 -14

Dup7

Full Sample 56 6.18 2.45 1a - 12 6.59 2.47 2 -14 5.18 2.38 1a - 10 4.96 2.80 1a -12

Girls 28 6.39 2.69 3- 12 7.04 2.52 3 -14 5.39 2.39 1a - 10 5.39 2.56 1a -11

Boys 28 5.96 2.22 1a - 11 6.14 2.38 2 -10 4.96 2.38 1a - 10 4.54 2.62 1a -11

Total Sample

Full Sample 303 5.49 2.57 1a - 15 7.09 2.43 1a -14 5.36 2.36 1a - 13 6.42 2.58 1a - 4

Girls 154 6.01 2.63 1a - 15 7.19 2.42 1a -14 5.45 2.42 1a - 11 6.80 2.48 1a -13

Boys 149 4.95 2.39 1a - 15 6.97 2.50 2 -14 5.28 2.29 1a - 13 6.02 2.63 1a -14

Note. CCC-2 = Children’s Communication Checklist-2; ScS = scaled score; WS = Williams syndrome; Dup7 = 7q11.23 duplication syndrome; Comm. =

Communication. aLowest possible scaled score

49

50

Figure 3. Mean scaled scores for the CCC-2 Pragmatic Communication scales for

children with Williams syndrome and children with 7q11.23 duplication syndrome. Error

bars indicate the 95% confidence intervals

The significant interaction between Scale and Syndrome was evaluated in two

different ways. First, the pattern of significant effects was examined separately for each

syndrome by conducting a separate one-way repeated measure ANOVA for each

syndrome, with Pragmatic Communication Scale as the within-subject variable. For the

ANOVA for children with WS, the Greenhouse-Geisser estimate of departure from

sphericity was ε = .96. Using the Greenhouse-Geisser correction, the effect of Scale was

significant, F(2.887, 710.103) = 81.01, p < .001, η² = .25. Multiple comparisons using

the Sidak method, shown in Table 10, indicated that scaled scores for Scripted Language

were significantly higher than scaled scores for Initiation, Context, and Nonverbal

Communication. In addition, scaled scores for Nonverbal Communication were

0

1

2

3

4

5

6

7

8

Inappropriate

Initiation

Scripted

Language

Use of Context Nonverbal

Communication

Mea

n S

cale

d S

core

CCC-2 Pragmatic Scale

Williams Syndrome 7q11.23 Duplication Syndrome

51

significantly higher than scaled scores for Initiation and Context. None of the other

pairwise differences was significant.

Table 10

P values (using Sidak Correction) and Cohen’s d Values for Pairwise Comparisons of

Scaled Scores on CCC-2 Pragmatic Scales as a function of Syndrome

Scripted

Language

Context Nonverbal

Comm.

Syndrome Scale Mean p d p d p d

WS

Initiation 5.33 <.001 .75 .997 .03 <.001 .57

Scripted

Language

7.20 <.001 .75 .013 .19

Context 5.41 <.001 .56

Nonverbal

Comm.

6.75

Dup7

Initiation 6.18 .812 .17 .039 .41 .007 .46

Scripted

Language

6.59 <.001 .58 <.001 .61

Context 5.18 .998 .08

Nonverbal

Comm.

4.96

Note. ScS = scaled score, WS = Williams syndrome; Comm. = Communication; Dup7

= 7q11.23 duplication syndrome

For the ANOVA for children with Dup7, the Greenhouse-Geisser estimate of

departure from sphericity was ε = .97. Using the Greenhouse-Geisser correction, the

52

effect of Scale was significant, F(2.894, 159.15) = 10.66, p < .001, η² = .16. Sidak

comparisons, shown in Table 9, indicated a pattern of significant differences that partially

overlapped the pattern that was found for children with WS. For children with Dup7,

scaled scores for both Initiation and Scripted Language were significantly higher than

scaled scores for Context and Nonverbal Communication. None of the other pairwise

comparisons between scaled scores was statistically significant.

To further evaluate the significant Scale X Syndrome interaction, four t-tests were

conducted, one for each Pragmatic Communication scale, comparing the performance of

children with WS to the performance of children with Dup7. To control for multiple

analyses, α was set at .0125 (.05/4). Scaled scores for Nonverbal Communication were

significantly higher for the WS group than the Dup7 group, t(301) = 4.84, p < .001, d

= .72. The between-syndrome difference in scaled scores was not statistically significant

for the Initiation [t(301) = 2.24, p = .026, d = .33], Scripted Language [t(301) = 1.68, p

= .094, d = .25], or Context [t(301) = 0.65, p = 0.52 d = .10] scales.

Comparison of Language Form and Content and Pragmatic Communication Ability

To determine if there was a significant difference between the CCC-2 mean scaled

score for the Language Form and Content Scales (Speech, Syntax, Semantics, Coherence)

and the CCC-2 mean scaled score for the Pragmatic Communication Scales (Initiation,

Scripted Language, Context, Nonverbal Communication) as a function of Sex and/or

Syndrome, a mixed ANOVA was conducted with CCC-2 Component (mean Language

Form and Content Scale scaled score, mean Pragmatic Communication Scale scaled

score) as the within-subject factor and Sex and Syndrome as the between-subject factors.

The main effect of mean scaled score was not statistically significant, F(1. 299) = .69, p

53

= .097, η² = .00. The main effect of Syndrome was statistically significant, F(1, 299) =

4.92, p = .027. η² = .016, with children with WS (M = 6.33) scoring significantly higher

than children with Dup7 (M = 5.67). The interaction between Syndrome and Scale was

not significant, F(1, 299) = 2.92, p = .089, η² = .01. The main effect of Sex was not

statistically significant, F(1, 299) = 3.52 , p = .061, η² = .01. The interaction between

Scale and Sex, F(1, 299) = 0.89, p = .767, η² = .00 and the three-way interaction between

Scale, Syndrome, and Sex, F(2.918, 872.392) = 1.92, p = .167, η² = .01, also were not

statistically significant.

Autism-related Scales

Descriptive statistics for performance on the CCC-2 Autism-related scales are

provided in Table 11 first for each syndrome and then for each sex and finally for the full

sample and for each sex. To determine if performance on the CCC-2 Autism-related

scales differed significantly as a function of Scale and/or Sex and/or Syndrome, a mixed

ANOVA was conducted with Autism-related Scale (Social Relations, Interests) as the

within-subject factor and Sex and Syndrome as the between-subject factors. The main

effect of Autism-related Scale was significant, F(1, 299) = 13.89, p < .001, η² = .04. The

main effect of Syndrome also was significant, F(1, 299) = 8.09, p = .005. η² = .03. These

main effects were tempered by a significant interaction between Scale and Syndrome,

F(1, 299) = 77.73, p < .001, η² = .21 (see Figure 4). The main effect of Sex also was

statistically significant, F(1, 299) = 17.55, p < .001, η² = .06, with females (M = 7.50)

earning significantly higher scaled scores than males (M = 6.10), d = .54. The interaction

between Scale and Sex was not statistically significant, F(1, 299) = 1.09, p = .297, η²

54

= .00. The effect of the three-way interaction between Scale, Syndrome, and Sex also was

not statistically significant, F(1, 299) = 3.30, p = .070, η² = .01.

The significant interaction between Scale and Syndrome was evaluated in two

different ways. First, the pattern of differences between scaled scores on the two Autism-

related scales was examined separately for each syndrome by conducting a paired

samples t-test. For the children with WS, the difference between scaled scores was

statistically significant, t(246) = 5.69, p < .001, d = .35, with scaled scores for Social

Table 11

Descriptive Statistics for the Parents’ Ratings of the Performance of Children with Williams

Syndrome or 7q11.23 Duplication Syndrome on the CCC-2 Autism-related Scales

Social Relations ScS Interests ScS

Sample N Mean SD Range Mean SD Range

WS Full Sample 247 7.75 2.44 3 - 13 6.82 2.86 1a - 16

Girls 126 8.04 2.31 3 - 13 7.63 2.80 1a - 15

Boys 121 7.45 2.55 3 - 13 5.98 2.69 1a - 16

Dup7 Full Sample 56 5.16 2.63 1a - 13 7.48 2.69 2 - 13

Girls 28 6.07 2.52 1a- 12 8.21 2.82 3 - 13

Boys 28 4.25 2.46 1a- 11 6.71 2.34 2 - 11

Total Full Sample 303 7.27 2.67 1a- 13 6.94 2.84 1a - 16

Girls 154 7.68 2.46 3- 13 7.74 2.81 1a - 15

Boys 149 6.85 2.82 1a- 13 6.11 2.63 1a - 16

Note. CCC-2 = Children’s Communication Checklist-2; ScS = scaled score; WS = Williams

syndrome; Dup7 = 7q11.23 duplication syndrome.

a = Lowest possible scaled score.

55

Relations significantly higher than scaled scores for Interests. For the children with Dup7,

the difference also was statistically significant, t(55) = -7.29, p < .001, d = .88. However,

the pattern was the opposite of that for children with WS. For children with Dup7, scaled

scores for Interests were significantly higher than scaled scores for Social Relations.

To further evaluate the significant Scale X Syndrome interaction, two

independent sample t-tests were conducted, one for each Autism-related scale, comparing

the performance of children with WS to the performance of children with Dup7. To

control for multiple analyses, α was set at .025 (.05/2). Scaled scores for Social Relations

were significantly higher for the WS group than the Dup7 group, t(301) = 7.06, p < .001,

d = 1.05, as shown in Figure 4. The between-syndrome difference was not statistically

significant for the Interests scale, t(301) = 1.59, p = .114, d = .24 (Figure 4).

Figure 4. Mean scaled scores for the CCC-2 Autism-related scales for children

with Williams syndrome and children with 7q11.23 duplication syndrome. Error bars

indicate the 95% confidence intervals.

0

1

2

3

4

5

6

7

8

9

Social Relations Interests

Mea

n S

cale

Sco

res

Autsim-related Scale

Williams Syndrome 7q11.23 Duplication Syndrome

56

Research Question 3: Concurrent Predictors of Pragmatic Communication

The third goal was to determine the concurrent predictors of pragmatic

communication ability for each of the two syndromes. To address this goal, two separate

multiple linear regressions were performed. CCC-2 Pragmatic Communication mean

scaled score was the dependent variable. The independent variables were CA, CCC-2

Language Form and Content mean scaled score, KBIT-2 Nonverbal SS, BRIEF-2 BRI

and ERI mean T-score, and Sex.

Predictors of Pragmatic Communication Ability: Children with Williams Syndrome

Descriptive statistics for children with WS for the variables included in the

regression are reported in Table 12. Bivariate correlations between these variables are

shown in Table 13. All correlations were significant except for the correlation between

KBIT-2 NV SS and mean BRI & ERI T-score.

The model described above explained a large amount of the variance in CCC-2

Pragmatic Communication mean scaled score, R2 = .64, adjusted R2 = .64, F(5, 246) =

87.14, p < .001. As indicated in Table 14, all independent variables except Nonverbal

Reasoning contributed to the model significantly. The effect size was small for CA

(uniquely accounting for 0.67% of the variance in the Pragmatic Communication

variable) and Biological Sex (uniquely accounting for 1.46% of the variance), medium

for BRI and ERI mean T-score (uniquely accounting for 10.96% of the variance), and

large for Language Form and Content (uniquely accounting for 22.66% of the variance).

57

Table 13

Correlations for Parent Ratings of the Performance of Children with Williams Syndrome on

the Regression Variables

Scale 1 2 3 4 5

1. CCC-2 Pragmatic Comm M ScS

2. Chronological Age .07

3. Sex .13 -.11

4. CCC-2 Form and Content M ScS .72** .12 -.02

5. KBIT NV SS .30** -.06 .02 .40**

6. Mean BRI/ERI T score .58** -.20 -.06 .39** .09**

Note. NV = Nonverbal; SS = Standard Score; CCC-2 = Children’s Communication

Checklist; KBIT = Kaufman Brief Intelligence Test; BRI = Behavior Regulation Index;

ERI = Emotion Regulation Index; Comm = Communication; M = Mean; ScS = scaled score

**p ≤ .001

Table 12

Descriptive Statistics for the Continuous Variables Included in the Regression

Analyses: Children with Williams Syndrome

Measure Mean Median SD Range

CCC-2 Pragmatic Communication Mean ScS 6.17 6.25 1.99 2 – 13.50

Chronological Age 10.57 10.28 2.96 6 – 15.50

KBIT-2 Nonverbal SS 76.04 77.00 16.23 40 – 116

CCC-2 Language Form and Content Mean ScS 6.49 6.50 2.33 1a – 12.50

BRIEF-2 BRI and ERI mean T-score 68.88 64.00 9.52 40.5 – 90

Note. CCC-2 = Children’s Communication Checklist-2; ScS = scaled score; KBIT-2 =

Kaufman Brief Intelligence Test – 2; BRIEF-2 = Behavior Rating Inventory of Executive

Functioning – 2; BRI = Behavior Regulation Index; ERI = Emotion Regulation Index.

aLowest possible scaled score.

58

Table 14

Multiple Regression Analysis Predicting Concurrent Pragmatic Communication Abilities for

Children with Williams Syndrome as Measured by the Children’s Communication Checklist -2

Mean Pragmatic Communication Scaled Score

Predictor B t p 95% CI for

B

Semi-

partial r

Cohen’s

f2

Constant 5.92 16.83 <.001 5.23 - 6.11

Chronological Age -.06 -2.15 .03 .11 - .01 .08 .02

Sex .48 3.15 .002 .18 - .79 .12 .04

KBIT NV SS .01 1.00 .32 -.01 - .02 .04 .01

CCC-2 Form and Content M ScS .48 12.37 <.001 .41 - .56 .48 .63

Mean BRI/ERI T score -.08 -8.62 <.001 -.09 - -.06 -.33 .31

Note. KBIT NV SS = Kaufman Brief Intelligence Test-2 Nonverbal standard score; CCC-2

Form and Content M ScS= mean of the Children’s Communication Checklist-2 Form and

Content scaled scores; Mean BRI/ERI T score = mean of the Behavior Rating Inventory of

Executive Function-2 Behavior Regulation Index and Emotion Regulation Index.

Predictors of Pragmatic Communication Ability: Children with 7q11.23 Duplication

Syndrome

Descriptive statistics for the variables included in the regression are reported in

Table 15. Bivariate correlations between these variables are shown in Table 16. All

correlations were significant except for the correlation between KBIT-2 NV SS and CCC-

2 Pragmatic Communication mean scaled score and the correlation between KBIT-2 NV

SS and mean BRI and ERI T-score. The model described above explained a large

amount of the variance in CCC-2 Pragmatic Communication mean scaled score, R2 = .60,

adjusted R2 = .56, F(5, 50) = 15.16, p < .001. All independent variables except KBIT-2

NV SS and Sex contributed significantly to the model (Table 17). The effect size was

59

medium for CA (uniquely accounting for 13.54% of the variance in the Pragmatic

Communication variable) and mean BRI and ERI T-score (uniquely accounting for

12.32% of the variance) and large for Language Form and Content (uniquely accounting

for 24.40% of the variance).

Table 15

Descriptive Statistics for the Continuous Variables Included in the Regression Analyses:

Children with 7q11.23 Duplication Syndrome

Measure Mean Median SD Range

CCC-2 Pragmatic Communication Mean ScS 5.73 5.63 2.00 2.25 – 10.25

Chronological Age 10.33 10.20 2.82 6.08 – 15.28

KBIT-2 Nonverbal SS 89.88 89.00 18.12 50 – 123

CCC-2 Language Form and Content Mean ScS 5.62 5.63 2.46 1a – 10.25

BRIEF-2 BRI and ERI mean T-score 67.61 69.00 10.77 43.5 – 86.5

Note. CCC-2 = Children’s Communication Checklist-2; ScS = scaled score. NV =

Nonverbal; SS = Standard Score; CCC-2 = Children’s Communication Checklist; KBIT =

Kaufman Brief Intelligence Test; Mean BRI/ERI T score = mean of the Behavior Rating

Inventory of Executive Function-2 Behavior Regulation Index and Emotion Regulation

Index; ScS = scaled score

aLowest possible scaled score.

60

Table 16

Correlations for Parent Ratings of the Performance of Children with 7q11.23 Duplication

Syndrome on the Regression Variables

Predictor 1 2 3 4 5

1. CCC-2 Pragmatic Comm M ScS

2. Sex -.17

3. Chronological Age -.14 .05

4. CCC-2 Form and Content M ScS .59** .33* .33*

5. KBIT NV SS .20 -.26 .22

6. Mean BRI/ERI T score .50** -.06 -.17 -.35** -.18

Note. NV = Nonverbal; ScS = scaled score; SS = Standard Score; CCC-2 = Children’s

Communication Checklist; KBIT = Kaufman Brief Intelligence Test; BRI = Behavior

Regulation Index; ERI = Emotion Regulation Index; Comm = Communication; M = Mean

**p ≤ .001

61

Table 17

Multiple Regression Analysis Predicting Pragmatic Concurrent Communication Abilities for

Children with 7q11.23 Duplication Syndrome as Measured by the Children’s Communication

Checklist-2 Mean Pragmatic Communication Scaled Score

Predictor B t p 95% CI for B Semi-

partial r

Cohen’s f2

Constant 6.41 10.48 < .001 6.94 – 9.93

Chronological Age -.29 4.13 <.001 -.41 – -.14 -.37 .34

Sex -.45 -1.17 .23 -.29 – 1.20 .11 .03

KBIT NV SS -.01 -0.71 .50 -.03 – .02 .06 .01

CCC-2 Form and Content

M ScS

.49 5.35 <.001 .31 – .66 .49 .61

Mean BRI/ERI T score -.06 -3.20 <.001 -.11 – -.04 -.35 .31

Note. KBIT NV SS = Kaufman Brief Intelligence Test-2 Nonverbal standard score, CCC-2 Form and

Content M ScS= mean of the Children’s Communication Checklist-2 Form and Content scaled scores;

Mean BRI/ERI T score = mean of the Behavior Rating Inventory of Executive Function-2 Behavior

Regulation Index and Emotion Regulation Index.

62

CHAPTER IV

DISCUSSION

Gaining increased knowledge on pragmatic development is beneficial to help

children with developmental disabilities such as WS and Dup7. Pragmatic

communication is defined by Berko-Gleason (2005) as the use of language to express

one’s intentions and get things done in the world. It is the use of language in social

contexts. Difficulties in pragmatic communication can affect the educational setting,

home setting, and friendship settings. The effects of deficits in pragmatic communication

can often be seen in ASD (e.g., Baron-Cohen, 1988; Parsons, Cordier, Munro, Joosten &

Speyer, 2017; Rodas, Eisenhowe & Blacher, 2017; Tager-Flusberg, 1981).

The dissertation had three main goals. The first goal was to examine the overall

level of language and communication ability as measured by the CCC-2 for children with

WS and children with Dup7 relative to CA expectations. The second goal was to

determine the pattern of relative strengths and weaknesses in language form and content,

pragmatic communication, and ASD-related behaviors for both children with WS and

children with Dup7 and to compare these patterns. The final goal was to identify the

concurrent predictors of pragmatic communication ability for children with each of the

two syndromes. In the remainder of this chapter, I summarize and discuss the

implications of these findings and consider the limitations of the project and future

directions for research.

63

Research Question 1: Overall Language Performance

The first goal of this dissertation was to examine the overall level of language and

communication ability as measured by the CCC-2 for children with WS and children with

Dup7 relative to CA expectations. For both groups, the mean CCC-2 composite SS was in

the language impairment range. Although there was considerable variability in CCC-2

composite SSs within each group, more than 60% of children with each syndrome were

classified as having a language impairment. The mean CCC-2 composite SS was slightly

but significantly higher for the children with WS than the children with Dup7. This is

striking since the Dup7 group’s mean IQ was about 20 points higher than the WS group’s,

and the Verbal IQ for the Dup7 group also was significantly higher than the Verbal IQ for

the WS group. The current findings for WS are consistent with previous studies with

smaller samples involving the CCC or the CCC-2 (Hoffman et al., 2013; Laws & Bishop,

2004; Philofsky et al., 2007) in the level of impairment and variability present.

The SIDI scores demonstrated that for most of the children in each group

pragmatic communication ability was in the range of form and content language ability.

The two groups did not differ significantly in SIDI score. The overall pattern of SIDI

scores for both syndromes was a normal bell-shaped curve, with most children

performing in the normal range, a pattern like that for TD children. This study confirms

the findings of other studies of children with WS (Hoffman et al., 2013; Philofsky et al.,

2007) which also showed that the mean SIDI was close to 0 indicating no significant

difference in pragmatic and form and content language ability.

64

Research Question 2: Patterns of Relative Strengths and Weaknesses

The second research goal was to determine if there were patterns of relative

strengths and weaknesses on each component of the CCC-2 for each syndrome. Patterns

were identified for each syndrome, for each CCC-2 component, as summarized below.

Language Form and Content

For children with WS, Coherence was found to be a significant relative weakness

compared to the other Form and Content Scales (Speech, Syntax, and Semantics). This

finding is consistent with Laws and Bishop (2004) who reported that children with WS

have a nominal weakness in the Coherence scale relative to the other Form and Content

scales. Philofsky and Fidler (2007) also found that Coherence was a nominal weakness

relative to Speech and Syntax for children with WS.

Children with Dup7 demonstrate a different Form and Content profile, with a

significant relative weakness on the Speech scale when compared to Syntax, Semantics,

and Coherence. Furthermore, children with Dup7 earned a significantly lower scaled

score than children with WS on the Speech scale. This finding is consistent with the

results obtained by Huffman (2019) using an examiner-administered measure of speech

articulation, the Goldman-Fristoe Test of Articulation-2 (GFTA-2; Goldman & Fristoe,

2000). Huffman found that despite having higher significantly higher IQs than the

children with WS, the children with Dup7 scored significantly lower on the GFTA-2.

Pragmatic Communication

The Pragmatic Communication patterns of relative strengths and weaknesses

partially overlapped for the WS and Dup7 groups. For children with WS, Initiation and

Use of Context were significantly weaker than Scripted Language and Nonverbal

65

Communication. Laws and Bishop (2004) as well as Philofsky and Fidler (2007) found

that children with WS have nominal difficulty with Inappropriate Initiation and Use of

Context relative to Scripted Language and Nonverbal Communication. It has also been

previously shown in studies not using the CCC or CCC-2 that children with WS talk

frequently about irrelevant topics, have poor turn taking skills, are overly friendly and

inappropriately approach strangers, fail to add adequate information to a conversation,

and have trouble with topic maintenance (e.g., Dilts et al., 1990; Gosch & Pankau, 1997;

Meyerson & Frank, 1987; Semel & Rosner, 2003; Stojanovik, Perkins, & Howard, 2001;

Tomc et al., 1990; Udwin & Yule, 1991). This finding also is consistent with previous

work indicating that young children with WS demonstrate a relative strength in emotional

responsivity and increased imitation of affect (Fidler, Hepburn, Most, Philofsky &

Rogers, 2007).

The Pragmatic Communication pattern for children with Dup7 overlapped that for

children with WS. For children with Dup7, Initiation and Scripted Language scaled

scores were significantly higher than scaled scores for Use of Context and Nonverbal

Communication. The children with Dup7 also earned significantly lower scaled scores

than the children with WS on the Nonverbal Communication scale. Based on findings

from the ADOS-2 assessment, Klein-Tasman and Mervis (2018) found that more than

half of the participants with Dup7 scored within normal limits on the scripted

language/stereotyped language items.

Autism-related Scales

The two syndromes demonstrated opposite patterns on the Autism-related scales:

The children with WS evidenced a relative strength on Social Relations and a relative

66

weakness on Interests, whereas the children with Dup7 had a relative strength on Interests

and a relative weakness on Social Relations. Other studies have demonstrated the

repetitive preoccupation or obsessions present in WS (Janes et al., 2014; Klein-Tasman,

van der Fluit & Mervis, 2018; Rodgers, Riby, Janes, Connolly & McConachie, 2012); the

majority of children with Dup7 did not evidence difficulty with preoccupations or

obsessions during the ADOS-2 (Klein-Tasman & Mervis, 2018). Previous studies have

indicated children with Dup7 are less engaging and use less eye contact around strangers,

perhaps due to social anxiety (Mervis et al., 2015; Velleman & Mervis, 2011). In contrast,

children with WS are affectively attuned to others and are highly engaged with their

social partners (Klein-Tasman & Mervis, 2003).

In addition, there was a main effect of Sex with females scoring higher than males

on the Autism-related scales. This pattern is congruent with other studies showing a

higher male: female ratio of children with ASD (e.g., Fombonne, 2009; Werling &

Geschwind, 2013).

Research Question 3: Concurrent Predictors of Pragmatic Communication

An examination of the correlations of the independent variables included in the

regression analyses indicated that for both children with WS and children with Dup7,

pragmatic communication ability was significantly related to language form and content

ability. This relation has previously been reported for children with behavioral problems

(Helland et al., 2014), children with DS (Udhnani et al., 2020), and children with ASD

(Levinson, Eisenhower, Bush, Carter & Blancher, 2020; Norbury, Gemmell & Paul,

2013). Pragmatic communication ability also was significantly related to behavior and

emotion regulation for both groups of children. This pattern has been reported previously

67

for children with DS (Lee et al., 2017), children with ASD or SLI (Geurts & Embrechts,

2008; Helland & Helland, 2017), children with behavior problems (Helland et al., 2014),

and TD children (Leonard et al., 2011).

Finally, for children with WS but not for children with Dup7, pragmatic

communication ability was significantly related to nonverbal reasoning ability. This

mixed finding is congruent with the current literature. A relation between pragmatic

communication and nonverbal reasoning has been found in children with ASD (Udhnani

et al., 2020), and children with DS (Lee et al., 2017) while other studies do not find the

relationship in children with DS (Udhnani et al., 2020) typically developing children, or

children with ASD (Whyte & Nelson, 2015).

Concurrent Predictors

For children with WS, language form and content ability, behavior and emotional

regulation, CA, and sex all contributed significantly to the model predicting concurrent

pragmatic communication ability. Language form and content was the strongest predictor,

with better language form and content ability predicting better pragmatic communication.

Behavioral and Emotional Regulation was the next strongest predictor, with better

regulation predicting stronger pragmatic communication. CA and Sex were significant

but weak predictors of pragmatic communication, with girls evidencing stronger

pragmatic communication than boys and younger CA being associated with higher mean

scaled score for Pragmatic Communication. Although as children with WS increase in

CA their raw pragmatic communication scores also increase, the gains are not large

enough to keep the scaled score constant.

68

For children with Dup7, the pattern was the same for children with WS except

that Sex was not a significant predictor of pragmatic communication. It is likely this is

due to power; both the semi-partial correlation and Cohen’s f2 values for Sex for the

Dup7 group were similar to those for the WS group.

Similar findings have been reported in other studies. Lane and colleagues (2019)

also found language form and content and CA predicted pragmatic communication for

both children with WS and children with Sotos syndrome. In their study which included

smaller sample sizes than the present study, sex was not a significant predictor for either

syndrome. In addition, in children with behavior problems, language form and content

ability and extent of behavior problems at 7 years of age predicted pragmatic

communication ability at ages 12 – 15 years old (Helland et al., 2014).

Behavioral and emotional regulation was also a significant predictor of pragmatic

communication for both syndromes. The BRIEF-2 BRI and ERI measure the ability to

inhibit one’s prepotent responses, shift between cognitive sets, exert emotional

regulation, and monitor one’s own behaviors while maintaining control of one’s

emotional response. No study has previously been done relating behavioral and emotional

regulation to pragmatic communication in children with WS or Dup7. However, in other

syndromes executive functioning has been shown to predict pragmatic communication.

Udhnani and colleagues (2019) found that a model including sex, nonverbal IQ, social

abilities, and executive functioning predicted pragmatic language in children with ASD or

DS, although they did not report which of these variables contributed significant unique

variance to pragmatic communication ability.

69

CA also was a significant predictor of pragmatic communication for both

syndromes. This also confirms the previous findings for children and adults with ASD

(Wallace et al., 2018) and children with DS (Lee et al., 2018) that CA predicts pragmatic

communication.

Sex was a significant predictor of pragmatic communication for children with WS

but not for children with Dup7. The WS finding is consistent with Wallace and colleagues

(2018) who found sex was predictive of pragmatic language ability in children with ASD.

For the Dup7 group, the lack of a significant effect for sex was likely due to limited

power, as both the part correlation and Cohen’s f2 for the effect of Sex were similar to

those for the WS group.

Nonverbal ability did not provide a significant contribution to the model for WS

or Dup7. This replicates a previous study that did not find nonverbal ability to correlate

with pragmatic communication ability in children with ASD or TD controls (Norbury et

al., 2013).

Potential Gene Dosage Effects

The findings from this study provide evidence for at least three clear effects of

gene dosage for one or more genes in the WS region of chromosome 7q11.23 on

language/cognitive ability. Relative to TD children, children with WS and children with

Dup7 demonstrated a significant difficulty both with language form and content and with

pragmatic communication as measured by the CCC-2. This pattern is indicative of a gene

dosage effect in which any variation in gene dosage negatively affects an ability

(Deshpande, & Weiss, 2018). However, the overall negative effect on everyday language

and communication was significantly larger for Dup7 than for WS, indicating that

70

duplication of one or more of the genes in the WS region is more deleterious than

deletion for these components of the phenotype. This effect was especially apparent for

speech articulation, both as measured by the CCC-2 in the present study and by the

examiner-administered GFTA-2 as reported by Huffman (2019). For overall intellectual

ability, both deletion and duplication of one or more genes in the WS region again had a

negative effect. However, in this case, deletion was more deleterious than duplication, as

overall IQ was considerably higher for children with Dup7 than for children with WS,

Limitations and Future Directions

Dup7 is a more recently genotyped syndrome (Somerville et al., 2005) and while

the sample included in this study is among the largest for children with this syndrome, it

is considerably smaller than the sample of children with WS. To determine the

generalizability of the present findings, similar studies should be conducted with children

who have other syndromes.

In the present study, only the CCC-2 caregiver form was used. Another

perspective would be to include the teacher report form along with the parent report form

in future studies. Hammond (2019) found that the parent and the teacher forms only

demonstrated poor to fair agreement for children with developmental language disorders;

however, the two did agree on whether there was a social communication problem

present. In addition, an observational lab measure, such as the Pragmatic Protocol

(Prutting & Kirchner, 1987) could have been included to measure communication ability

in the lab. However, the use of the CCC-2, which is widely accepted as a measure of

pragmatic communication, allows for a broader inclusion of real-world situations. The

same limitations are present for the use of the BRIEF-2 for measuring executive

71

functioning skills. There are parent report measures of executive functioning and

experimenter-administered tasks of executive functioning skills. However, the use of the

BRIEF-2 allowed for a measure of various aspects of real-world executive functioning

such as emotional regulation and behavioral regulation which would be more difficult to

measure in a laboratory task.

The current study was cross-sectional. To determine the developmental trajectory

of language form and content ability and pragmatic communication ability more

accurately, longitudinal studies are needed. To begin to narrow down which of the genes

in the WS region is contributing to reductions in language form and content ability,

pragmatic communication ability, speech articulation, and overall intellectual ability,

studies comparing the rare children with shorter deletions or duplications of the WS

region are needed.

Summary and Conclusion

In the present dissertation I sought to examine the overall level of language and

communication ability as measured by the CCC-2 for children with WS and children with

Dup7, to determine the pattern of relative strengths and weaknesses in language form and

content, pragmatic communication, and ASD-related behaviors for both WS and Dup7,

and to determine concurrent predictors of pragmatic communication for the two

syndromes. Difficulty with overall language performance was demonstrated for both

syndromes. However, as evidenced by their SIDI scores, children with WS and children

with Dup7 on average performed at the same level for pragmatic communication as for

language form and content, which is the same pattern as for the general population. On

the Form and Content scales, children with WS had the most difficulty on Coherence,

72

whereas children with Dup7 had the most difficulty on the Speech scale. Within

Pragmatic Communication, both groups evidenced a relative weakness on Initiation.

Children with WS also evidenced a relative weakness on Use of Context, whereas the

children with Dup7 also evidenced a relative weakness on Scripted Language. The two

syndromes demonstrated opposing patterns on the Autism-related scales: Children with

WS showed a relative strength on Social Relations whereas children with Dup7 showed a

relative strength on Interests. The concurrent predictors of pragmatic communication

ability were very similar for the two syndromes, with significant effects for language

form and content ability, behavior and emotional regulation, and CA. Interventions that

focus on improving language form and content ability and interventions focused on

emotional and behavioral regulation may be beneficial in improving the pragmatic

communication abilities of children with WS and children with Dup7. Finally, the results

of this dissertation contribute to an improved understanding of potential gene dosage

effects of one or more genes in the WS region on chromosome 7q11.23 on language and

communication abilities.

73

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CURRICULUM VITAE

Amanda G. Harmon

Personal Information:

Office Address: Charleston Southern University

101 Strom Thurmond Faculty Suites

9200 University Boulevard

Charleston, SC 29406

Office phone Number: 843-863-7712

Email address: aharmon@csuniv.edu

amanda.harmon@louisville.edu

Education:

University of Louisville

Louisville, KY

Ph.D., Experimental Psychology 2020

University of Louisville

Louisville, KY

M.S., Experimental Psychology 2011

The Pennsylvania State University

University Park, PA

M.S., Biobehavioral Health 2008

2007-2008 Hintz Graduate Education Enhancement Award

The Pennsylvania State University

University Park, PA

B.A., Human Development and Family Studies 2006

American Association of University Women Grant

Stuart Ellen Scholarship

Professional History Assistant Professor of Psychology Charleston Southern University

August 2017 – present

Certified Online Instructor 2019

Quality Matters Course Reviewer Spring 2018 – present

Adjunct Instructor Charleston Southern University

August 2016 – July 2017

90

Statewide Trainer and Compliance Officer JusticeWorks BehavioralCare

May 2013 – August 2017

Adjunct Instructor Eastern University, PA

Spring 2013

Adjunct Instructor The Pennsylvania State University

Summer 2006, Summer 2007

Graduate Research Assistant University of Louisville,

Neurodevelopmental Science Laboratory

July 2008 – June 2012

Teaching Assistant The Pennsylvania State University

Spring 2005 – Spring 2008

Publications

Farwig, K., Harmon, A. G., Fontana, K. M., Mervis, C. B., & Morris, C. A. (2010). Genetic

counseling of adults with Williams syndrome: A first study. American Journal of

Medical Genetics, 154C, 307-315.

Harmon, A. G., Towe-Goodman, N., Fortunato, C., & Granger, D. (2008). Use of salivary

alpha-amylase in biobehavioral research: A note of caution. Hormones and Behavior,

54, 592-596.

Harmon, A. G., Hibel, L. C., Rumyantseva, O., & Granger, D. A., (2007). Measuring

salivary cortisol in studies of child development: Watch out - what goes in may not

come out of commonly used saliva collection devices. Developmental Psychobiology,

49, 495-500.

Granger, D. A., Kivlighan, K. T., Fortunato, C., Harmon, A. G., Hibel, L. C., Schwartz, E.

B., & Whembolua, G-L (2007). Integration of salivary biomarkers into developmental

and behaviorally-oriented research: Problems and solutions for collecting specimens.

Physiology and Behavior, 92, 583-590.

Conference Presentations (Oral)

Shivvers, A. & Harmon, A. (2020, March). The effect of age on emotional intelligence

adaptability, and relationship satisfaction. Southeastern Psychological Association,

New Orleans, LA.

Blackmon, S. & Harmon, A. (2020, April). The effect of checking for attention on survey

participants’ intuitive response. Carolinas Psychology Conference. Campbell

University, Buies Creek, NC.

91

Shivvers, A. & Harmon, A. (2020, April). The relationship between emotional intelligence,

adaptability, and relationship satisfaction. Carolinas Psychology Conference.

Campbell University, Buies Creek, NC

Chenery, A. & Harmon, A. (2019, April). The effects of social environmental factors on

individuals’ occupational and educational decision making. Carolinas Psychology

Conference. Campbell University, Buies Creek, NC.

Rawls, G. & Harmon, A. (2019, April). The effect of colorist views on attraction. Carolinas

Psychology Conference. Campbell University, Buies Creek, NC.

Conference Presentations (Poster)

Blackmon, S. & Harmon, A. (2020, March). The effect of checking for attention on survey

participants’ intuitive response. Southeastern Psychological Association, New

Orleans, LA.

Bruner, A., & Harmon, A. (2019, March). The effect of self-esteem on friendships and

romantic relationships. Southeastern Psychological Association, Jacksonville, FL.

Shivvers, A., & Harmon, A. (2019, March). Emotional intelligence in relation to strategic

flexibility and relationship satisfaction. Southeastern Psychological Association,

Jacksonville, FL.

Harmon, A. G., John, A. E., & Mervis, C. B. (2010, June). Literacy skills of 9 – 17-year-

olds with Williams syndrome: Impact of reading method. Symposium on Research in

Child Language Disorders, Madison, WI.

Harmon, A. G., John, A. E., & Mervis, C. B. (2009, June). Pragmatic language ability in

children with Williams syndrome. Symposium on Research in Child Language

Disorders, Madison, WI.

Harmon, A., Hibel, L. C., Rumyantseva, O., & Granger, D. A., (2007, March). Measuring

salivary cortisol in studies of child development: Watch out - what goes in may not

come out of commonly used saliva collection devices. Biennial Meeting of the Society

for Research in Child Development, Boston, MA.

Hibel, L. C., Harmon, A., & Granger, D. A., & Booth, A (2007, March). Salivary

androstenedione and child development: Gender differences, pubertal development,

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